DISEASES

Disease-gene associations mined from literature

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