Human genes for Charlevoix-Saguenay spastic ataxia
Charlevoix-Saguenay spastic ataxia [DOID:0050946]
An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.
Synonyms: Charlevoix-Saguenay spastic ataxia, CharlevoixSaguenay spastic ataxia, Charlevoix-Saguenay spastic ataxias, DOID:0050946