Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease mainly characterized by cerebellar ataxia, progressive spasticity and peripheral neuropathy. The disease is caused by mutations in the SACS gene (13q11) that alter the...
“Metabolic rewiring in cellular models of ARSACS” – Dr Paul Chapple
The viability of neurons in the brain depends on a complex series of interconnected biochemical reactions that constitute cellular metabolism. Disruption of these metabolic pathways is associated with neurological conditions, including Alzheimer’s and Parkinson’s....
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” – Dre Alanna Watt et Dre Anne McKinney
One of the hallmark features of ARSACS is dysfunction and eventual death of Purkinje cells in the cerebellum, which contributes to ataxia. Strikingly, not all Purkinje cells become ill and die: rather, specific patterns of vulnerability and resilience to cell death...
“Therapeutic Approaches for ARSACS”- Drs Benoit Gentil et Heather Durham
ARSACS is characterised by the lack of sacsin expression, and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide and/or...
“A mouse- human single nuclei-RNA seq profiling in ARSACS cerebellun: understanding how alterations i different cell types contribute to neurodegeneration” – Dre Francesca Maltecca
This project aims to evaluate the contribution of the different cerebellar cell types to neurodegeneration in ARSACS. In our recent publication (Del Bondio et al., 2023) we showed that in the ARSACS mouse cerebellum there is increased expression of astrocytic...
“Discovery of new ARSACS modifier genes in the Saguenay founder population” – Dr Simon Girard
L’Ataxie Récessive Spastique Autosomique de Charlevoix-Saguenay (ARSACS) est une maladie neurologique rare et invalidante. On la retrouve avec des prévalences beaucoup plus élevés dans plusieurs régions du monde, notamment au Saguenay-Lac-St-Jean. Cette prévalence...
“Structural Determination of Sacsin” – Dr Walid Houry
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a progressive neurodegenerative genetic disorder characterized by an early childhood onset. ARSACS presents with polyneuropathy, with hallmark loss of cerebellar Purkinje neurons, and movement...
“Exploring and treating cognitive dysmetria in the mouse model of ARSACS” – Dr Stefan Strack
The cerebellum is critical for the coordination of movements and thought processes. Indeed, patient suffering from spinocerebellar ataxias including ARSACS commonly display psychiatric and cognitive symptoms. These cognitive and neuropsychiatric symptoms are often...