spinocerebellar ataxia 47
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.
MONDO:0020380
autosomal dominant cerebellar ataxia
is_a
PUM1-related cerebellar ataxia
exact
SCA47
related
spinocerebellar ataxia 47
exact