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 are observed in both human patients and mouse models of ARSACs. Our work focuses on identification of the factors that promote resilience or prevent vulnerability to cell death. For example, we recently reported that both the location and molecular profile of Purkinje cells are involved in determining cell survival or death (Toscano-Marquez et al., 2021), and that a mitochondrial-targeted antioxidant can prevent ataxia worsening in mice (Toscano-Marquez et al., 2023). We continue this work focusing on (1) the identification of pathophysiological changes in the brain, including in both neurons and non-neuronal cells, as well as (2) identifying novel therapeutic targets.

Grant: $198,000

Duration: first  year of a 2 year project

Dr. Alanna Watt

Dr. Alanna Watt, Department of Biology

McGill University, Bellini Life Science  Building, room 265
3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1

Dr. Anne McKinney, Department of Pharmacology and Therapeutics 

McGill University Bellini Life Science Building, room 167
3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1