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Charlevoix-Saguenay spastic ataxia

Summary
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.
Super Class
autosomal recessive cerebellar ataxia
Disease Ontology
DOID:0050946
Mondo Disease Ontology
MeSH
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
26278 SACS sacsin molecular chaperone
Displaying 1 entry
Gene ID Gene Symbol Description Source
50720 Sacs sacsin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NZJ4 Sacsin
Displaying 1 entry
UniProt ID Protein Name Source
Q9JLC8 Sacsin
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 4, 2025