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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

From SNPedia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder found mostly among people with French-Canadian ancestry from northeastern Quebec. It is caused by mutations in the SACS gene. 23andMe tests for the 6954delT mutation as i5012578. [PMID 21450511]