Charlevoix-Saguenay spastic ataxia

Term ID

DOID:0050946

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. (3)

References

• GARD:4910
• MESH:C536787
• OMIM:270550

Ontology

Human Disease   ( DOID:0050946 )