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ARSACS

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AcronymDefinition
ARSACSAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay


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Andrea Richter, PhD Hopital Sainte-Justine New tools to study autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) We are investigating ARSACS, a clinically well studied form of inherited ataxia that is frequent in Quebec but has now been recognized in several other countries.
Hudson has made numerous scientific achievements including recent cloning of a gene for a neurodegenerative disease called ARSACS, a disease that affects 300 individuals in northeastern Quebec; mapping of a gene causing infantile cirrhosis and identification of mutations involved in diabetes and lipid disorders.
ARSACS is a form of early onset ataxia with spasticity that was originally described in the Charlevoix-Saguenay region of Quebec in Canada.
 
 
 
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