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Metadata
ID	DOID:0050946
Name	Charlevoix-Saguenay spastic ataxia
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. https://www.ncbi.nlm.nih.gov/pubmed/24384335, https://www.ncbi.nlm.nih.gov/pubmed/26344561, https://www.omim.org/entry/270550
Xrefs	GARD:4910 MESH:C536787 OMIM:270550
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal recessive cerebellar ataxia