Search
spastic ataxia of Charlevoix-Saguenay
Epidemiology:
- high prevalence in the Charlevoix-Saguenay-lac-Saint-Jean region of Quebec
Pathology:
- hypermyelination of retinal-nerve fibers
Genetics:
- autosomal recessive
- associated with defects in SACS
Clinical manifestations:
- early onset neurodegenerative disease
Laboratory:
- SACS gene mutation
Special laboratory:
- electromyogram (EMG), nerve conduction study
- absent sensory-nerve conduction
- reduced motor-nerve velocity
Related
Andermann syndrome (Charlevoix' disease)
General
genetic disease of the central nervous system
genetic disease of the peripheral nervous system
Database Correlations
OMIM 270550
References
OMIM :accession 270550