Spastic ataxia 1

Definition

Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.

Also known as autosomal dominant spastic ataxia caused by mutation in VAMP1, spastic ataxia type 1, SPAX1, VAMP1 autosomal dominant spastic ataxia — per MONDO

Also identified as

• DOID 0050772 per MONDO
• MESH C566993 per MONDO
• OMIM 108600 per MONDO
• Orphanet 251282 per MONDO
• UMLS C1970107 per MONDO