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 gene vectors and, because of the chaperone function of sacsin, we investigate the potential of alternative therapies already in development in our laboratory to promote protein chaperoning. We have studied domains functions necessary for the replacement therapy and identified that HDAC inhibitors, or chaperone inducers have a strong therapeutic potential. Our laboratory is moving forward the development of a gene therapy and focused on the development of peptide and gene therapies. We have generated a vector for gene therapy and move forward our project to determine its efficiency. Our lab is also working on finding other therapeutic strategies and we are assessing the therapeutic potential of brain permeant HDAC inhibitors for ARSACS. We will examine the role of different HDACs inhibitors in resorbing intermediate filaments bundles and affecting Rab1 homeostasis which is affected in ARSACS. 

Grant: $100,000

Duration: One year


Dr. Benoit Gentil  & Dr. Heather Durham

Department of Kinesiology and Physical Education, McGill University 

475 Pine Avenue West,   room 210,  Montreal (Québec)  H2W 1S4,