Term Name:	Charlevoix-Saguenay spastic ataxia
Synonyms:
Definition:	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.
Ontology:	Human Disease [DOID:0050946]   ( DOID:0050946 )