{"id":25998,"date":"2026-04-10T16:06:08","date_gmt":"2026-04-10T20:06:08","guid":{"rendered":"https:\/\/2026.arsacs.com\/?page_id=25998"},"modified":"2026-07-03T10:52:28","modified_gmt":"2026-07-03T14:52:28","slug":"publications-sur-larsacs","status":"publish","type":"page","link":"https:\/\/arsacs.com\/fr\/research\/publications-on-arsacs\/","title":{"rendered":"Publications sur l'ARSACS"},"content":{"rendered":"<div class=\"et_pb_section_0 et_pb_section et_section_regular et_block_section\" id=\"research-project-reports\">\n<div class=\"et_pb_row_0 et_pb_row et_block_row\">\n<div class=\"et_pb_column_0 et_pb_column et_pb_column_4_4 et-last-child et_block_column et_pb_css_mix_blend_mode_passthrough\">\n<div class=\"et_pb_blog_0 et_pb_blog et_pb_bg_layout_light et_pb_posts et_pb_module\"><div class=\"et_pb_ajax_pagination_container\"><div class=\"et_pb_blog_posts et_grid_module\"><article class=\"et_pb_post et_pb_post_id_25658 clearfix et_pb_blog_item_0_0 post-25658 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/alterations-in-the-na-hexchanger-nhe6-and-glutamate-transportersmay-influence-purkinje-cell-fate-in-arsacs\/\">Des alt\u00e9rations de l'\u00e9changeur Na+\/H+ NHE6 et des transporteurs de glutamate pourraient influencer le destin des cellules de Purkinje dans l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Janvier 2026<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/10\/Jiao_s-style-scalp-acupuncture-combined.pdf\" target=\"_blank\" rel=\"noopener\">Des alt\u00e9rations de l'\u00e9changeur Na+\/H+ NHE6 et des transporteurs de glutamate pourraient influencer le destin des cellules de Purkinje dans l'ARSACS<\/a> \u2013 Louis-Charles Masson, Atchaya S. Kanagasabai, Brenda Toscano M\u00e1rquez, Julia Tourbina-Kolomiets, Fran\u00e7ois Charron, Alanna J. Watt, R. Anne McKinney.  Recherche men\u00e9e par Louis-Charles Masson et ses coll\u00e8gues.   <\/p>\n<style id=\"et-blog-post-content-25658\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25660 clearfix et_pb_blog_item_0_1 post-25660 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/genetic-analysis-of-three-patients-from-two-unrelated-chinese-families-with-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-2\/\">Analyse g\u00e9n\u00e9tique de trois patients issus de deux familles chinoises sans lien de parent\u00e9, atteints d'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Octobre 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/10\/s12920-025-02151-2.pdf\" target=\"_blank\" rel=\"noopener\">Analyse g\u00e9n\u00e9tique de trois patients issus de deux familles chinoises sans lien de parent\u00e9, atteints d'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a> \u2013 .  Un article publi\u00e9 dans BMC Medical Genomics en 2025..   <\/p>\n<style id=\"et-blog-post-content-25660\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25659 clearfix et_pb_blog_item_0_2 post-25659 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/scalp-acupuncture-combined-with-physiotherapy-for-arsacs\/\">Acupuncture du cuir chevelu associ\u00e9e \u00e0 la kin\u00e9sith\u00e9rapie dans le traitement de l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Octobre 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/10\/Jiao_s-style-scalp-acupuncture-combined.pdf\" target=\"_blank\" rel=\"noopener\">Acupuncture du cuir chevelu associ\u00e9e \u00e0 la kin\u00e9sith\u00e9rapie dans le traitement de l'ARSACS<\/a> \u2013 .  Un rapport de cas publi\u00e9 en Chine dans la revue Helyion en 2024..   <\/p>\n<style id=\"et-blog-post-content-25659\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25661 clearfix et_pb_blog_item_0_3 post-25661 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/identification-of-a-novel-sacs-gene-mutation-leading-to-spastic-ataxia-charlevoix-saguenay-type-a-case-report\/\">Identification d'une nouvelle mutation du g\u00e8ne SACS responsable d'une ataxie spastique de type Charlevoix-Saguenay : rapport de cas<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Ao\u00fbt 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-025-05480-z\" target=\"_blank\" rel=\"noopener\">Identification d'une nouvelle mutation du g\u00e8ne SACS responsable d'une ataxie spastique de type Charlevoix-Saguenay : rapport de cas<\/a> \u2013 .  Une \u00e9tude men\u00e9e en Uruguay et publi\u00e9e dans le *Journal of Medical Case Reports* en ao\u00fbt 2025..   <\/p>\n<style id=\"et-blog-post-content-25661\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25663 clearfix et_pb_blog_item_0_4 post-25663 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/long-term-benefits-of-tudca-supplement-in-arsacs-zebrafish-model\/\">Effets b\u00e9n\u00e9fiques \u00e0 long terme d'une suppl\u00e9mentation en TUDCA dans le mod\u00e8le de poisson-z\u00e8bre ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Juillet 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/07\/Long-term-benefits-of-TUDCA-supplement-in-ARSACS-zebrafish-model.pdf\" target=\"_blank\" rel=\"noopener\">Effets b\u00e9n\u00e9fiques \u00e0 long terme d'une suppl\u00e9mentation en TUDCA dans le mod\u00e8le de poisson-z\u00e8bre ARSACS<\/a> \u2013 Dr Valentina Naef.  Les travaux de recherche men\u00e9s par le Dr Valentina Naef et son \u00e9quipe, publi\u00e9s dans *Scientific Reports* en juillet 2025.   <\/p>\n<style id=\"et-blog-post-content-25663\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25662 clearfix et_pb_blog_item_0_5 post-25662 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/sacsin-deletion-decreases-cell-viscoelasticity-and-motility-in-a-glial-cell-model-of-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay\/\">\u00abLa d\u00e9l\u00e9tion du g\u00e8ne Sacsin r\u00e9duit la visco\u00e9lasticit\u00e9 et la motilit\u00e9 cellulaires dans un mod\u00e8le de cellules gliales de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay\u00bb<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Juillet 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/07\/Sacsin-deletion-decreases-cell-viscoelasticity-and-motility-in-a-glial-cell-model-of-autosomal-recessive-spastic-ataxia-of-Charlevoix-Saguenay.pdf\" target=\"_blank\" rel=\"noopener\">\u00abLa d\u00e9l\u00e9tion du g\u00e8ne Sacsin r\u00e9duit la visco\u00e9lasticit\u00e9 et la motilit\u00e9 cellulaires dans un mod\u00e8le de cellules gliales de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay\u00bb<\/a> \u2013 Dr Federico Herrera. D'apr\u00e8s les travaux du Dr Federico Herrera et de ses coll\u00e8gues, publi\u00e9s en juillet 2025 dans la revue *Archives of Biochemistry and Biophysics*.   <\/p>\n<style id=\"et-blog-post-content-25662\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25664 clearfix et_pb_blog_item_0_6 post-25664 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/successes-of-an-innovative-population-based-carrier-screening-program-for-4-prevalent-recessive-hereditary-diseases-in-a-population-with-a-founder-effect-in-quebec-canada\/\">Succ\u00e8s d'un programme novateur de d\u00e9pistage des porteurs au sein de la population, ciblant quatre maladies h\u00e9r\u00e9ditaires r\u00e9cessives courantes, dans une population pr\u00e9sentant un effet fondateur au Qu\u00e9bec, au Canada<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Mai 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/08\/Successes-of-an-innovative-population-based-carrier-screening-program-for-4-prevalent-recessive-hereditary-diseases-in-a-population-with-a-founder-effect-in-Quebec-Canada.pdf\" target=\"_blank\" rel=\"noopener\">Succ\u00e8s d'un programme novateur de d\u00e9pistage des porteurs au sein de la population, ciblant quatre maladies h\u00e9r\u00e9ditaires r\u00e9cessives courantes, dans une population pr\u00e9sentant un effet fondateur au Qu\u00e9bec, au Canada<\/a> \u2013 Dr Simon Girard. \u00c9tude publi\u00e9e dans *Genetics in Medicine Open*, mai 2025.<\/p>\n<style id=\"et-blog-post-content-25664\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25666 clearfix et_pb_blog_item_0_7 post-25666 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/s100b-mitigates-cytoskeletal-and-mitochondrial-alterations-in-a-glial-cell-model-of-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay\/\">Le S100B att\u00e9nue les alt\u00e9rations du cytosquelette et des mitochondries dans un mod\u00e8le de cellules gliales de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Mai 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/06\/Mitigates-Cytoskeletal-and-Mitochondrial-Alterations-ARSACS.pdf\" target=\"_blank\" rel=\"noopener\">Le S100B att\u00e9nue les alt\u00e9rations du cytosquelette et des mitochondries dans un mod\u00e8le de cellules gliales de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a> \u2013 Dr Federico Herrera.  Recherche publi\u00e9e dans la revue *Molecular Neurobiology*.  Cette recherche a \u00e9t\u00e9 financ\u00e9e par la Fondation ARSACS en 2022-2023.<\/p>\n<style id=\"et-blog-post-content-25666\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25665 clearfix et_pb_blog_item_0_8 post-25665 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/autosomal-recessive-cerebellar-ataxias-translating-genes-to-therapies\/\">Ataxies c\u00e9r\u00e9belleuses autosomiques r\u00e9cessives : du g\u00e8ne au traitement<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Mai 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/06\/Annals-of-Neurology-2025-Fogel-Autosomal-Recessive-Cerebellar-Ataxias-Translating-Genes-to-Therapies.pdf\" target=\"_blank\" rel=\"noopener\">Ataxies c\u00e9r\u00e9belleuses autosomiques r\u00e9cessives : du g\u00e8ne au traitement<\/a> \u2013 Dr Francesca Maltecca.  \u00c9tude publi\u00e9e dans *The Annals of Neurology* en mai 2025.   <\/p>\n<style id=\"et-blog-post-content-25665\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25667 clearfix et_pb_blog_item_0_9 post-25667 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/an-investigation-of-corticospinal-tract-microstructural-integrity-in-arsacs-using-a-profilometry-mri-analysis-results-from-the-prospax-study\/\">\u00c9tude de l'int\u00e9grit\u00e9 microstructurale du faisceau corticospinal dans le syndrome d'ARSACS \u00e0 l'aide d'une analyse IRM par profilom\u00e9trie : r\u00e9sultats de l'\u00e9tude PROSPAX<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Mars 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/05\/Scaravilli2025.pdf\" target=\"_blank\" rel=\"noopener\">\u00c9tude de l'int\u00e9grit\u00e9 microstructurale du faisceau corticospinal dans le syndrome d'ARSACS \u00e0 l'aide d'une analyse IRM par profilom\u00e9trie : r\u00e9sultats de l'\u00e9tude PROSPAX<\/a> \u2013 .  \u00c9tude men\u00e9e dans le cadre du consortium PROSPAX, publi\u00e9e dans l'European Journal of Neurology.   <\/p>\n<style id=\"et-blog-post-content-25667\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25668 clearfix et_pb_blog_item_0_10 post-25668 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/whole-blood-dna-methylation-analysis-reveals-epigenetic-changes-associated-with-arsacs\/\">Une analyse de la m\u00e9thylation de l'ADN dans le sang total r\u00e9v\u00e8le des modifications \u00e9pig\u00e9n\u00e9tiques associ\u00e9es \u00e0 l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">janvier 2025<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/03\/link.springer.com-2025-03-04-9_50_16-AM.pdf\" target=\"_blank\" rel=\"noopener\">Une analyse de la m\u00e9thylation de l'ADN dans le sang total r\u00e9v\u00e8le des modifications \u00e9pig\u00e9n\u00e9tiques associ\u00e9es \u00e0 l'ARSACS<\/a> \u2013 Dr Daniele Galatolo. Publi\u00e9 dans *The Cerebellum* en janvier 2025.   <\/p>\n<style id=\"et-blog-post-content-25668\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25671 clearfix et_pb_blog_item_0_11 post-25671 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/longitudinal-imaging-biomarkers-correlate-with-progressive-motor-deficit-in-the-mouse-model-of-charlevoix-saguenay-ataxia\/\">Les biomarqueurs d'imagerie longitudinale sont en corr\u00e9lation avec le d\u00e9ficit moteur progressif dans le mod\u00e8le murin de l'ataxie de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">D\u00e9c. 2024<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.27146\" target=\"_blank\" rel=\"noopener\">Les biomarqueurs d'imagerie longitudinale sont en corr\u00e9lation avec le d\u00e9ficit moteur progressif dans le mod\u00e8le murin de l'ataxie de Charlevoix-Saguenay<\/a> \u2013 Dr Francesca Maltecca.  \u00c9tude publi\u00e9e dans la revue *Annals of Neurology* le 6 d\u00e9cembre 2024.   <\/p>\n<style id=\"et-blog-post-content-25671\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25670 clearfix et_pb_blog_item_0_12 post-25670 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/arsacs-clinical-features-pathophysiology-and-ips-derived-models\/\">ARSACS : caract\u00e9ristiques cliniques, physiopathologie et mod\u00e8les d\u00e9riv\u00e9s de cellules iPS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">D\u00e9c. 2024<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/01\/arsacs-clinical-features-pathophysiology-and-i-ps-derived-models.pdf\" target=\"_blank\" rel=\"noopener\">ARSACS : caract\u00e9ristiques cliniques, physiopathologie et mod\u00e8les d\u00e9riv\u00e9s de cellules iPS<\/a> \u2013 Dr Nicolas Dupr\u00e9.  Les travaux de recherche du Dr Nicolas Dupr\u00e9 et de son \u00e9quipe ont \u00e9t\u00e9 publi\u00e9s dans la revue *The Cerebellum*.   <\/p>\n<style id=\"et-blog-post-content-25670\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25673 clearfix et_pb_blog_item_0_13 post-25673 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/reduction-of-sacsin-in-peripheral-blood-mononuclear-cells-as-a-diagnostic-tool-for-spastic-ataxia-of-charlevoix-saguenay\/\">La diminution du taux de Sacsin dans les cellules mononucl\u00e9aires du sang p\u00e9riph\u00e9rique comme outil diagnostique de l'ataxie spastique de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Juillet 2024<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2024\/07\/FMAltecca_Brain-Communications_Oxford_Academic_filespdf.pdf\" target=\"_blank\" rel=\"noopener\">La diminution du taux de Sacsin dans les cellules mononucl\u00e9aires du sang p\u00e9riph\u00e9rique comme outil diagnostique de l'ataxie spastique de Charlevoix-Saguenay<\/a> \u2013 Dr Francesca Maltecca. Publi\u00e9 dans la revue *Brain Communications* le 18 juillet 2024. Cette recherche a \u00e9t\u00e9 financ\u00e9e par la Fondation ARSACS. <\/p>\n<style id=\"et-blog-post-content-25673\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25676 clearfix et_pb_blog_item_0_14 post-25676 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/mri-arsacs-an-imaging-index-for-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs-identification-based-on-the-multicenter-study-prospax\/\">MRI-ARSACS : un indice d'imagerie permettant le d\u00e9pistage de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay (ARSACS), issu de l'\u00e9tude multicentrique (PROSPAX)<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Juin 2024<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38847051\/\" target=\"_blank\" rel=\"noopener\">MRI-ARSACS : un indice d'imagerie permettant le d\u00e9pistage de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay (ARSACS), issu de l'\u00e9tude multicentrique (PROSPAX)<\/a> \u2013 .  Les r\u00e9sultats de l'\u00e9tude PROSPAX ont \u00e9t\u00e9 publi\u00e9s dans la Biblioth\u00e8que nationale de m\u00e9decine..   <\/p>\n<style id=\"et-blog-post-content-25676\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25672 clearfix et_pb_blog_item_0_15 post-25672 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/digital-gait-outcomes-for-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs-discriminative-convergent-and-ecological-validity-in-a-multicenter-study-prospax\/\">R\u00e9sultats num\u00e9riques relatifs \u00e0 la marche dans le cadre de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay (ARSACS) : validit\u00e9 discriminante, convergente et \u00e9cologique dans une \u00e9tude multicentrique (PROSPAX)<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Juin 2024<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38847438\/\" target=\"_blank\" rel=\"noopener\">R\u00e9sultats num\u00e9riques relatifs \u00e0 la marche dans le cadre de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay (ARSACS) : validit\u00e9 discriminante, convergente et \u00e9cologique dans une \u00e9tude multicentrique (PROSPAX)<\/a> \u2013 .  Les premiers r\u00e9sultats de l'\u00e9tude PROSPAX ont \u00e9t\u00e9 publi\u00e9s dans la Biblioth\u00e8que nationale de m\u00e9decine..   <\/p>\n<style id=\"et-blog-post-content-25672\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25674 clearfix et_pb_blog_item_0_16 post-25674 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/driving-mitochondrial-fission-improves-cognitive-but-not-motor-deficits-in-a-mouse-model-of-ataxia-of-charlevoix-saguenay\/\">La stimulation de la fission mitochondriale am\u00e9liore les d\u00e9ficits cognitifs, mais pas les d\u00e9ficits moteurs, dans un mod\u00e8le murin de l\u2019ataxie de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Mai 2024<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2024\/05\/SStrack_-The-Cerebellum_May_2024.pdf\" target=\"_blank\" rel=\"noopener\">La stimulation de la fission mitochondriale am\u00e9liore les d\u00e9ficits cognitifs, mais pas les d\u00e9ficits moteurs, dans un mod\u00e8le murin de l\u2019ataxie de Charlevoix-Saguenay<\/a> \u2013 Dr Stefan Strack. L'article du Dr Strack a \u00e9t\u00e9 publi\u00e9 dans *The Cerebellum* en mai 2024.   <\/p>\n<style id=\"et-blog-post-content-25674\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25669 clearfix et_pb_blog_item_0_17 post-25669 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/the-genetic-basis-of-early-onset-hereditary-ataxia-in-iran-results-of-a-national-registry-of-a-heterogeneous-population\/\">Les bases g\u00e9n\u00e9tiques de l'ataxie h\u00e9r\u00e9ditaire pr\u00e9coce en Iran : r\u00e9sultats d'un registre national portant sur une population h\u00e9t\u00e9rog\u00e8ne<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Avril 2024<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/drive.google.com\/file\/d\/1rZCXphmBSjZpE_usC0KQzh9UePbZeVls\/view\" target=\"_blank\" rel=\"noopener\">Les bases g\u00e9n\u00e9tiques de l'ataxie h\u00e9r\u00e9ditaire pr\u00e9coce en Iran : r\u00e9sultats d'un registre national portant sur une population h\u00e9t\u00e9rog\u00e8ne<\/a> \u2013 .  Une \u00e9tude men\u00e9e en Iran et publi\u00e9e dans la revue *The Cerebellum* en avril 2024..   <\/p>\n<style id=\"et-blog-post-content-25669\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25675 clearfix et_pb_blog_item_0_18 post-25675 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/interactors-of-sacsins-dnaj-domain-identify-function-in-organellar-transport-and-membrane-composition-relevant-to-arsacs-pathogenesis\/\">Les prot\u00e9ines interagissant avec le domaine DNAJ de la saccine permettent d'identifier un r\u00f4le dans le transport organellaire et la composition membranaire, en lien avec la pathogen\u00e8se de l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">janvier 2024<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2024\/02\/Article_DrGentil_BioRxiv_2024-01-09-1.pdf\" target=\"_blank\" rel=\"noopener\">Les prot\u00e9ines interagissant avec le domaine DNAJ de la saccine permettent d'identifier un r\u00f4le dans le transport organellaire et la composition membranaire, en lien avec la pathogen\u00e8se de l'ARSACS<\/a> \u2013 Dr Benoit Gentil. L\u2019article du Dr Gentil sur les fonctions de la saccine a \u00e9t\u00e9 publi\u00e9 sous forme de pr\u00e9publication sur BioRvix.   <\/p>\n<style id=\"et-blog-post-content-25675\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25677 clearfix et_pb_blog_item_0_19 post-25677 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/a-sacs-deletion-variant-in-great-pyrenees-dogs-causes-autosomal-recessive-neuronal-degeneration\/\">Une variante de d\u00e9l\u00e9tion du g\u00e8ne SACS chez les chiens de race \u00ab Great Pyrenees \u00bb provoque une d\u00e9g\u00e9n\u00e9rescence neuronale autosomique r\u00e9cessive<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">septembre 2023<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2024\/07\/Dr_Kari_Ekenstedt_Article_Human-Genetics-SACS_deletion-in-dogs-_Sept2023-1.pdf\" target=\"_blank\" rel=\"noopener\">Une variante de d\u00e9l\u00e9tion du g\u00e8ne SACS chez les chiens de race \u00ab Great Pyrenees \u00bb provoque une d\u00e9g\u00e9n\u00e9rescence neuronale autosomique r\u00e9cessive<\/a> \u2013 Dr Kari J. Ekenstedt.  \u00c9tude publi\u00e9e dans la revue *Human Genetics* en septembre 2023.   <\/p>\n<style id=\"et-blog-post-content-25677\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25678 clearfix et_pb_blog_item_0_20 post-25678 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/restoring-calcium-homeostasis-in-purkinje-cells-arrests-neurodegeneration-and-neuroinflammation-in-the-arsacs-mouse-model\/\">Le r\u00e9tablissement de l'hom\u00e9ostasie calcique dans les cellules de Purkinje freine la neurod\u00e9g\u00e9n\u00e9rescence et la neuroinflammation dans le mod\u00e8le murin de l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Mai 2023<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2023\/05\/Maltecca_publication_JCI_163576.1-20230509121208-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf\" target=\"_blank\" rel=\"noopener\">Le r\u00e9tablissement de l'hom\u00e9ostasie calcique dans les cellules de Purkinje freine la neurod\u00e9g\u00e9n\u00e9rescence et la neuroinflammation dans le mod\u00e8le murin de l'ARSACS<\/a> \u2013 Dr Francesca Maltecca.  Les travaux de recherche du Dr Maltecca ont \u00e9t\u00e9 publi\u00e9s dans JCI Insights en mai 2023.   <\/p>\n<style id=\"et-blog-post-content-25678\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25680 clearfix et_pb_blog_item_0_21 post-25680 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/a-mitochondrial-targeted-antioxidant-mitoq-improves-motor-coordination-and-reduces-purkinje-cell-death-in-a-mouse-model-of-arsacs\/\">Un antioxydant ciblant les mitochondries (MitoQ) am\u00e9liore la coordination motrice et r\u00e9duit la mort des cellules de Purkinje dans un mod\u00e8le murin de l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Mai 2023<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2023\/05\/Watt_McKinney_Neurology_Disease_June_2023.pdf\" target=\"_blank\" rel=\"noopener\">Un antioxydant ciblant les mitochondries (MitoQ) am\u00e9liore la coordination motrice et r\u00e9duit la mort des cellules de Purkinje dans un mod\u00e8le murin de l'ARSACS<\/a> \u2013 Dr Alanna Watt, Dr Anne McKinney.  Une \u00e9tude men\u00e9e \u00e0 l'Universit\u00e9 McGill et publi\u00e9e dans la revue *Neurobiology of Disease*.   <\/p>\n<style id=\"et-blog-post-content-25680\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25679 clearfix et_pb_blog_item_0_22 post-25679 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/in-vitro-characterization-of-motor-neurons-and-purkinje-cells-differentiated-from-induced-pluripotent-stem-cells-generated-from-patients-with-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay\/\">Caract\u00e9risation in vitro de motoneurones et de cellules de Purkinje diff\u00e9renci\u00e9s \u00e0 partir de cellules souches pluripotentes induites issues de patients atteints d'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Avril 2023<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2023\/04\/Dr.-Dupre_CHU_Stem-_Cells_International_April_2023.pdf\" target=\"_blank\" rel=\"noopener\">Caract\u00e9risation in vitro de motoneurones et de cellules de Purkinje diff\u00e9renci\u00e9s \u00e0 partir de cellules souches pluripotentes induites issues de patients atteints d'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a> \u2013 Dr Nicolas Dupr\u00e9.  Article de recherche du Dr Nicolas Dupr\u00e9 publi\u00e9 dans *Stem Cells International*.   <\/p>\n<style id=\"et-blog-post-content-25679\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25685 clearfix et_pb_blog_item_0_23 post-25685 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/alphafold-predicted-structure-of-the-hsp90-like-domains-of-the-neurodegeneration-linked-protein-sacsin-reveals-key-residues-for-atpase-activity\/\">La structure pr\u00e9dite par AlphaFold des domaines de type Hsp90 de la prot\u00e9ine sacsin, associ\u00e9e \u00e0 la neurod\u00e9g\u00e9n\u00e9rescence, met en \u00e9vidence les r\u00e9sidus cl\u00e9s de l'activit\u00e9 ATPase<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">janvier 2023<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2023\/03\/Article_Paul-Chapple_Frontiers_2023-01-13_Sacsin-Hsp90-AphaFold.pdf\" target=\"_blank\" rel=\"noopener\">La structure pr\u00e9dite par AlphaFold des domaines de type Hsp90 de la prot\u00e9ine sacsin, associ\u00e9e \u00e0 la neurod\u00e9g\u00e9n\u00e9rescence, met en \u00e9vidence les r\u00e9sidus cl\u00e9s de l'activit\u00e9 ATPase<\/a> \u2013 Dr Paul Chapple. Publi\u00e9 dans Frontiers, le 13 janvier 2023.   <\/p>\n<style id=\"et-blog-post-content-25685\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25681 clearfix et_pb_blog_item_0_24 post-25681 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/multi-omic-profiling-reveals-the-ataxia-protein-sacsin-is-required-for-integrin-trafficking-and-synaptic-organization\/\">Une analyse multi-omique r\u00e9v\u00e8le que la prot\u00e9ine sacsin, impliqu\u00e9e dans l'ataxie, est n\u00e9cessaire au transport des int\u00e9grines et \u00e0 l'organisation synaptique<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">novembre 2022<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2022\/11\/Publication_JWolter_Cell_ReportsNov_01_2022.pdf\" target=\"_blank\" rel=\"noopener\">Une analyse multi-omique r\u00e9v\u00e8le que la prot\u00e9ine sacsin, impliqu\u00e9e dans l'ataxie, est n\u00e9cessaire au transport des int\u00e9grines et \u00e0 l'organisation synaptique<\/a> \u2013 Dr Justin Wolter, Dr Paul Chapple. Article de recherche publi\u00e9 dans *Cell Reports*.   <\/p>\n<style id=\"et-blog-post-content-25681\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25682 clearfix et_pb_blog_item_0_25 post-25682 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/insights-into-sacs-pathological-attributes-in-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs\/\">Aper\u00e7u des caract\u00e9ristiques pathologiques du g\u00e8ne SACS dans l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay (ARSACS)<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">septembre 2022<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2022\/09\/Dr_Babu_article_Elsevier_sept_2022.pdf\" target=\"_blank\" rel=\"noopener\">Aper\u00e7u des caract\u00e9ristiques pathologiques du g\u00e8ne SACS dans l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay (ARSACS)<\/a> \u2013 Dr Mohan Babu. \u00c9tude publi\u00e9e par Elsevier en septembre 2022.   <\/p>\n<style id=\"et-blog-post-content-25682\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25683 clearfix et_pb_blog_item_0_26 post-25683 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/clinical-and-molecular-findings-of-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-an-iranian-case-series-expanding-the-genetic-and-neuroimaging-spectra\/\">R\u00e9sultats cliniques et mol\u00e9culaires de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay : une s\u00e9rie de cas iraniens \u00e9largissant le spectre g\u00e9n\u00e9tique et neuro-imagerique<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Juin 2022<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2025\/01\/ARSACS-REPORT-1.pdf\" target=\"_blank\" rel=\"noopener\">R\u00e9sultats cliniques et mol\u00e9culaires de l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay : une s\u00e9rie de cas iraniens \u00e9largissant le spectre g\u00e9n\u00e9tique et neuro-imagerique<\/a> \u2013 .  Une \u00e9tude men\u00e9e en Iran et publi\u00e9e dans la revue *The Cerebellum* en 2022..   <\/p>\n<style id=\"et-blog-post-content-25683\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25684 clearfix et_pb_blog_item_0_27 post-25684 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/recessive-cerebellar-and-afferent-ataxias-clinical-challenges-and-future-directions\/\">Ataxies c\u00e9r\u00e9belleuses et aff\u00e9rentes r\u00e9cessives : d\u00e9fis cliniques et perspectives d'avenir<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">mars 2022<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2022\/03\/Recessive_Cerebellar_afferent_Dupre_Pandolfo_March_2022.pdf\" target=\"_blank\" rel=\"noopener\">Ataxies c\u00e9r\u00e9belleuses et aff\u00e9rentes r\u00e9cessives : d\u00e9fis cliniques et perspectives d'avenir<\/a> \u2013 Dr Nicolas Dupr\u00e9. Publi\u00e9 dans la revue *Nature Reviews | Neurology*.   <\/p>\n<style id=\"et-blog-post-content-25684\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25689 clearfix et_pb_blog_item_0_28 post-25689 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/sacsin-deletion-induces-aggregation-of-glial-intermediate-filaments\/\">La d\u00e9l\u00e9tion du g\u00e8ne Sacsin induit l'agr\u00e9gation des filaments interm\u00e9diaires gliaux<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">janvier 2022<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2022\/01\/cells_Journal_SAcsin-deletion-Induces-_FHerrera_Portugal_2022-01-24.pdf\" target=\"_blank\" rel=\"noopener\">La d\u00e9l\u00e9tion du g\u00e8ne Sacsin induit l'agr\u00e9gation des filaments interm\u00e9diaires gliaux<\/a> \u2013 Dr Federico Herrera.  \u00c9tude publi\u00e9e dans la revue *Cells* le 16 janvier 2022.   <\/p>\n<style id=\"et-blog-post-content-25689\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25686 clearfix et_pb_blog_item_0_29 post-25686 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/hsp90-inhibition-a-promising-therapeutic-approach-for-arsacs\/\">Inhibition de la prot\u00e9ine Hsp90 : une approche th\u00e9rapeutique prometteuse pour l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">D\u00e9cembre 2021<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/12\/Giunti_Nethisinghe_Hsp90_Inhibition_A-promissing_Therapeutic_approach_for_ARSACS_oct_2021.pdf\" target=\"_blank\" rel=\"noopener\">Inhibition de la prot\u00e9ine Hsp90 : une approche th\u00e9rapeutique prometteuse pour l'ARSACS<\/a> \u2013 Dr Suran Nethisingle, Dr Paola Giunti. Publi\u00e9 dans l\u2019International Journal of Molecular Medicine en octobre 2021.   <\/p>\n<style id=\"et-blog-post-content-25686\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25687 clearfix et_pb_blog_item_0_30 post-25687 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/molecular-identity-and-location-influence-purkinje-cell-vulnerability-in-arsacs-mice\/\">L'identit\u00e9 mol\u00e9culaire et la localisation influencent la vuln\u00e9rabilit\u00e9 des cellules de Purkinje chez les souris ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">D\u00e9cembre 2021<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/12\/Drs-Watt_McKinney_Frontier_cellular_Neuroscience-_dec-2021.pdf\" target=\"_blank\" rel=\"noopener\">L'identit\u00e9 mol\u00e9culaire et la localisation influencent la vuln\u00e9rabilit\u00e9 des cellules de Purkinje chez les souris ARSACS<\/a> \u2013 Dr Alanna Watt, Dr Anne McKinney. Publi\u00e9 dans la revue Frontiers.   <\/p>\n<style id=\"et-blog-post-content-25687\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25688 clearfix et_pb_blog_item_0_31 post-25688 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/functional-mobility-in-walking-adult-population-with-ataxia-charlevoix-saguenay\/\">Mobilit\u00e9 fonctionnelle chez les adultes atteints d'ataxie et capables de marcher dans la r\u00e9gion de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Octobre 2021<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/10\/CGagnon_s13023-021-02054-2.pdf\" target=\"_blank\" rel=\"noopener\">Mobilit\u00e9 fonctionnelle chez les adultes atteints d'ataxie et capables de marcher dans la r\u00e9gion de Charlevoix-Saguenay<\/a> \u2013 Dr Cynthia Gagnon. Publi\u00e9 dans l\u2019Orphanet Journal of Rare Diseases.   <\/p>\n<style id=\"et-blog-post-content-25688\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25692 clearfix et_pb_blog_item_0_32 post-25692 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/assessment-of-sacsin-turnover-in-arsacs-patients-implications-for-molecular-diagnosis-and-pathogenesis\/\">\u00c9valuation du renouvellement de la saccine chez les patients atteints du syndrome d'ARSACS : implications pour le diagnostic mol\u00e9culaire et la pathogen\u00e8se<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Octobre 2021<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/10\/Publication_Francesca_Maltecca_ARSACS-October-2021-2.pdf\" target=\"_blank\" rel=\"noopener\">\u00c9valuation du renouvellement de la saccine chez les patients atteints du syndrome d'ARSACS : implications pour le diagnostic mol\u00e9culaire et la pathogen\u00e8se<\/a> \u2013 Dr Francesca Maltecca.  Article de recherche publi\u00e9 dans la revue *Neurology*.   <\/p>\n<style id=\"et-blog-post-content-25692\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25690 clearfix et_pb_blog_item_0_33 post-25690 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/the-ataxia-protein-sacsin-is-required-for-integrin-trafficking-and-synaptic-organization\/\">La prot\u00e9ine d'ataxie sacsin est indispensable au transport des int\u00e9grines et \u00e0 l'organisation synaptique<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">septembre 2021<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/www.biorxiv.org\/content\/10.1101\/2021.08.20.456807v1\" target=\"_blank\" rel=\"noopener\">La prot\u00e9ine d'ataxie sacsin est indispensable au transport des int\u00e9grines et \u00e0 l'organisation synaptique<\/a> \u2013 .  Article soumis pour publication par des chercheurs de l'ARSACS..   <\/p>\n<style id=\"et-blog-post-content-25690\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25691 clearfix et_pb_blog_item_0_34 post-25691 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/retinal-architecture-in-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs-insights-into-disease-pathogenesis-and-biomarkers\/\">Architecture r\u00e9tinienne dans l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay (ARSACS) : aper\u00e7us sur la pathogen\u00e8se de la maladie et les biomarqueurs<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">mars 2021<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/12\/Paola_Giunti_Retinal_Architecture_IN-ARSACSMArch_2021.pdf\" target=\"_blank\" rel=\"noopener\">Architecture r\u00e9tinienne dans l'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay (ARSACS) : aper\u00e7us sur la pathogen\u00e8se de la maladie et les biomarqueurs<\/a> \u2013 Dr Paola Giunti. Publi\u00e9 dans la rubrique \u00ab Articles de recherche \u00bb en mars 2021.   <\/p>\n<style id=\"et-blog-post-content-25691\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25693 clearfix et_pb_blog_item_0_35 post-25693 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/from-fuzziness-to-precision-medicine-on-the-rapidly-evolving-proteomics-with-implications-in-mitochondrial-connectivity-to-rare-human-disease\/\">Du flou \u00e0 la m\u00e9decine de pr\u00e9cision : r\u00e9flexion sur l\u2019\u00e9volution rapide de la prot\u00e9omique et ses implications concernant le lien entre la connectivit\u00e9 mitochondriale et les maladies humaines rares<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">F\u00e9vrier 2021<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/12\/Mohan_Babu-_-From_fuzziness-to-precision_medicine.pdf\" target=\"_blank\" rel=\"noopener\">Du flou \u00e0 la m\u00e9decine de pr\u00e9cision : r\u00e9flexion sur l\u2019\u00e9volution rapide de la prot\u00e9omique et ses implications concernant le lien entre la connectivit\u00e9 mitochondriale et les maladies humaines rares<\/a> \u2013 Dr Mohan Babu.  Article publi\u00e9 dans IScience.   <\/p>\n<style id=\"et-blog-post-content-25693\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25695 clearfix et_pb_blog_item_0_36 post-25695 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/ciliary-ganglioplegic-migraine-associated-with-sacs-mutation\/\">Migraine gangliopl\u00e9gique ciliaire associ\u00e9e \u00e0 une mutation du g\u00e8ne SACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">F\u00e9vrier 2021<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/austinpublishinggroup.com\/ophthalmology-visual-sciences\/fulltext\/jovs-v6-id1045.pdf\" target=\"_blank\" rel=\"noopener\">Migraine gangliopl\u00e9gique ciliaire associ\u00e9e \u00e0 une mutation du g\u00e8ne SACS<\/a> \u2013 .  Publi\u00e9 dans le *Journal of Ophthalmology and Visual Sciences*.   <\/p>\n<style id=\"et-blog-post-content-25695\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25694 clearfix et_pb_blog_item_0_37 post-25694 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/docosahexaenoic-acid-in-arsacs-observations-in-2-patients\/\">L'acide docosahexa\u00e9no\u00efque dans l'ARSACS : observations chez deux patients<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">D\u00e9cembre 2020<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/12\/Docosahexaenoic_acid_-Arsacs_-Observations_-BMC_Neurology.pdf\" target=\"_blank\" rel=\"noopener\">L'acide docosahexa\u00e9no\u00efque dans l'ARSACS : observations chez deux patients<\/a> \u2013 .  Publi\u00e9 dans BMC Neurology. Ne refl\u00e8te pas n\u00e9cessairement la position de la Fondation ARSACS.   <\/p>\n<style id=\"et-blog-post-content-25694\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25698 clearfix et_pb_blog_item_0_38 post-25698 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/case-report-expanding-the-genetic-and-phenotypic-spectrum-of-autosomal-recessive-spatic-ataxia-of-charlevoix-saguenay\/\">Rapport de cas : \u00c9largissement du spectre g\u00e9n\u00e9tique et ph\u00e9notypique de l'ataxie spatiale autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">D\u00e9cembre 2020<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/07\/ARSACS_in_Iran_case_report.pdf\" target=\"_blank\" rel=\"noopener\">Rapport de cas : \u00c9largissement du spectre g\u00e9n\u00e9tique et ph\u00e9notypique de l'ataxie spatiale autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a> \u2013 .  Publi\u00e9 dans *Frontiers in Genetics*.   <\/p>\n<style id=\"et-blog-post-content-25698\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25696 clearfix et_pb_blog_item_0_39 post-25696 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/the-importance-of-balancing-sacsin-protein-levels-in-arsacs-2\/\">L'importance d'un \u00e9quilibre des taux de prot\u00e9ine Sacsin dans l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">D\u00e9cembre 2020<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/scasource.net\/2020\/04\/10\/the-importance-of-balancing-sacsin-protein-levels-in-arsacs\/#content\" target=\"_blank\" rel=\"noopener\">L'importance d'un \u00e9quilibre des taux de prot\u00e9ine Sacsin dans l'ARSACS<\/a> \u2013 .  Article publi\u00e9 dans SCA Source..   <\/p>\n<style id=\"et-blog-post-content-25696\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25697 clearfix et_pb_blog_item_0_40 post-25697 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/an-excellent-source-of-information-on-arsacs-published-in-the-genereviews\/\">Une excellente source d'informations sur l'ARSACS, publi\u00e9e dans GeneReviews<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Octobre 2020<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1255\/\" target=\"_blank\" rel=\"noopener\">Une excellente source d'informations sur l'ARSACS, publi\u00e9e dans GeneReviews<\/a> \u2013 .  Base de donn\u00e9es en ligne \u00ab GeneReviews \u00bb d\u00e9crivant des maladies sp\u00e9cifiques..   <\/p>\n<style id=\"et-blog-post-content-25697\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25700 clearfix et_pb_blog_item_0_41 post-25700 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/a-new-measuring-stick-for-arsacs-2\/\">Un nouvel outil d'\u00e9valuation pour l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">F\u00e9vrier 2020<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/scasource.net\/2020\/02\/14\/designing-a-new-measuring-stick-for-arsacs\/\" target=\"_blank\" rel=\"noopener\">Un nouvel outil d'\u00e9valuation pour l'ARSACS<\/a> \u2013 Dr Cynthia Gagnon. Publi\u00e9 dans SCA Source.   <\/p>\n<style id=\"et-blog-post-content-25700\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25705 clearfix et_pb_blog_item_0_42 post-25705 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/list-of-publications-on-arsacs-from-1979-to-january-19-2019\/\">Liste des publications sur l'ARSACS de 1979 au 19 janvier 2019<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">janvier 2019<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/wp-content\/uploads\/2026\/06\/Publications_E__ARSACS_19_01_2019-1.pdf\" target=\"_blank\" rel=\"noopener\">Liste des publications sur l'ARSACS de 1979 au 19 janvier 2019<\/a> \u2013 Liste des archives historiques.<\/p>\n<style id=\"et-blog-post-content-25705\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25699 clearfix et_pb_blog_item_0_43 post-25699 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/sacsin-mutated-in-ataxia-arsacs-regulates-intermediate-filament-assembly-and-dynamics\/\">La prot\u00e9ine Sacsin, dont la mutation est \u00e0 l'origine de l'ataxie ARSACS, r\u00e9gule l'assemblage et la dynamique des filaments interm\u00e9diaires<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Octobre 2018<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/fr\/files\/Gentil%20et%20al%20FASEBJ%202018online.pdf\/\" target=\"_blank\" rel=\"noopener\">La prot\u00e9ine Sacsin, dont la mutation est \u00e0 l'origine de l'ataxie ARSACS, r\u00e9gule l'assemblage et la dynamique des filaments interm\u00e9diaires<\/a> \u2013 Dr Benoit Gentil. Publi\u00e9 dans FASEBJ.   <\/p>\n<style id=\"et-blog-post-content-25699\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25701 clearfix et_pb_blog_item_0_44 post-25701 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/from-motor-performance-to-participation-a-quantitative-descriptive-study-in-adults-with-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay\/\">Des performances motrices \u00e0 la participation : une \u00e9tude descriptive quantitative chez des adultes atteints d'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">septembre 2018<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/fr\/files\/Article_CGagnon_Sept2018_Orpahanet_Journal.pdf\/\" target=\"_blank\" rel=\"noopener\">Des performances motrices \u00e0 la participation : une \u00e9tude descriptive quantitative chez des adultes atteints d'ataxie spastique autosomique r\u00e9cessive de Charlevoix-Saguenay<\/a> \u2013 Dr Cynthia Gagnon. Publi\u00e9 dans l\u2019Orphanet Journal of Rare Diseases.   <\/p>\n<style id=\"et-blog-post-content-25701\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25702 clearfix et_pb_blog_item_0_45 post-25702 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/an-exploratory-natural-history-of-ataxia-of-charlevoix-saguenay\/\">Une \u00e9tude exploratoire de l'histoire naturelle de l'ataxie de Charlevoix-Saguenay<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Ao\u00fbt 2018<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/fr\/files\/Article_Cynthia_Gagnon_Neurology_juil_2018.pdf\/\" target=\"_blank\" rel=\"noopener\">Une \u00e9tude exploratoire de l'histoire naturelle de l'ataxie de Charlevoix-Saguenay<\/a> \u2013 Dr Cynthia Gagnon. Acad\u00e9mie am\u00e9ricaine de neurologie.   <\/p>\n<style id=\"et-blog-post-content-25702\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25703 clearfix et_pb_blog_item_0_46 post-25703 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/altered-synaptic-and-firing-properties-of-cerebellar-purkinje-cells-in-a-mouse-model-of-arsacs\/\">Modifications des propri\u00e9t\u00e9s synaptiques et de l'activit\u00e9 de tir des cellules de Purkinje du cervelet dans un mod\u00e8le murin de l'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Juin 2018<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/arsacs.com\/fr\/files\/Article_Mckinney_Watt_Journal_physiology_june_2018.pdf\/\" target=\"_blank\" rel=\"noopener\">Modifications des propri\u00e9t\u00e9s synaptiques et de l'activit\u00e9 de tir des cellules de Purkinje du cervelet dans un mod\u00e8le murin de l'ARSACS<\/a> \u2013 Dr Anne McKinney, Dr Alanna Watt. Publi\u00e9 dans *The Journal of Physiology*.   <\/p>\n<style id=\"et-blog-post-content-25703\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><article class=\"et_pb_post et_pb_post_id_25704 clearfix et_pb_blog_item_0_47 post-25704 post type-post status-publish format-standard hentry category-publications\"><h2 class=\"entry-title\"><a href=\"https:\/\/arsacs.com\/fr\/a-research-paper-looking-at-the-cytoskeleton-in-cells-cultured-from-arsacs-patients\/\">Un article de recherche consacr\u00e9 au cytosquelette dans des cellules issues de patients atteints d'ARSACS<\/a><\/h2><p class=\"post-meta\"><span class=\"published\">Mai 2017<\/span><\/p><div class=\"post-content\"><div class=\"post-content-inner\"><p><a href=\"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddx197\" target=\"_blank\" rel=\"noopener\">Un article de recherche consacr\u00e9 au cytosquelette dans des cellules issues de patients atteints d'ARSACS<\/a> \u2013 Dr Paul Chapple. Publi\u00e9 dans la revue *Human Molecular Genetics*.   <\/p>\n<style id=\"et-blog-post-content-25704\">:root{--gcid-primary-color: #00ade8;--gcid-secondary-color: #2ea3f2;--gcid-heading-color: #000000;--gcid-body-color: #333333;--gcid-link-color: #00ade8;--gcid-lsi0579jvy: #f7931e;--gcid-z1arhui989: #efefef;--gcid-attltbqn1v: #0c4a7c;--gcid-0889761b-9914-4108-b6bd-3f3490b70fdf: #f18d2d;}<\/style><\/div><\/div><\/article><\/div><div class=\"pagination clearfix\">\n\t<div class=\"alignleft\"><\/div>\n\t<div class=\"alignright\"><\/div>\n<\/div><\/div><\/div>\n<\/div>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Alterations in the Na+\/H+Exchanger NHE6 and Glutamate Transportersmay Influence Purkinje Cell Fate in ARSACS \u2013 Louis-Charles Masson, Atchaya S. Kanagasabai, Brenda Toscano M\u00e1rquez, Julia Tourbina-Kolomiets, Francois Charron, Alanna J. Watt, R. Anne McKinney. Research by Louis-Charles Masson and colleagues..<\/p>","protected":false},"author":6,"featured_media":0,"parent":12650,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-25998","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/pages\/25998","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/comments?post=25998"}],"version-history":[{"count":5,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/pages\/25998\/revisions"}],"predecessor-version":[{"id":26526,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/pages\/25998\/revisions\/26526"}],"up":[{"embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/pages\/12650"}],"wp:attachment":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/media?parent=25998"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}