Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the SACS gene, encoding sacsin. It is characterized by early onset cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.

**Synonyms:** - ARSACS - SPAX6 - Spastic Ataxia 6