Spinocerebellar ataxia 47

Definition

A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.

Also known as PUM1-related cerebellar ataxia, spinocerebellar ataxia 47 — per MONDO

Also identified as

• DOID 0111743 per MONDO
• OMIM 617931 per MONDO
• Orphanet 642747 per MONDO
• UMLS C4693672 per MONDO