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Spastic ataxia Charlevoix-Saguenay type MeSH Supplementary Concept Data 2023


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
122
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 Preferred
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