MeSH Browser

MeSH Supplementary: Spastic ataxia Charlevoix-Saguenay type
Unique ID: C536787
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536787
Entry Term(s): ARSACS; Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Charlevoix-Saguenay spastic ataxia; SPAX6; Spastic Ataxia, Charlevoix-Saguenay Type; Spastic ataxia 6, autosomal recessive; Spastic ataxia of Charlevoix-Saguenay
Registry Number: 0
Heading Mapped to: *Muscle Spasticity; Spinocerebellar Ataxias / *congenital
Frequency: 124
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/06/20

Spastic ataxia Charlevoix-Saguenay type MeSH Supplementary Concept Data 2024