Spastic ataxia Charlevoix-Saguenay type [Supplementary Concept]
A complex hereditary NEURODEGENERATIVE DISORDER that exhibits autosomal recessive inheritance. Onset is typically in early childhood and is characterized b CEREBELLAR ATAXIA; PYRAMIDAL TRACT signs, and PERIPHERAL NEUROPATHY. Most patients become wheelchair-bound, but cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy. Mutations in the SACS gene have been identified. OMIM: 270550
Date introduced: August 25, 2010
MeSH Unique ID: C536787
Heading Mapped to:
Entry Terms:
- Spastic ataxia 6, autosomal recessive
- SPAX6
- Charlevoix-Saguenay spastic ataxia
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Spastic ataxia of Charlevoix-Saguenay
- Spastic Ataxia, Charlevoix-Saguenay Type
- ARSACS