spastic ataxia 1

Term ID

DOID:0050772

Synonyms

Definition

A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type

References

• MIM:108600

Ontology

Human Disease   ( DOID:0050772 )