Spinocerebellar ataxia 47

MONDO:0033482

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, SCA47

19 clinical trials for this condition and its sub-types, 0 tagged with Spinocerebellar ataxia 47 itself.

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