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Spinocerebellar ataxia 14 [Supplementary Concept]

A hereditary autosomal dominant spinocerebellar ataxia with a mean age of onset of 31 years. It is characterized primarily by GAIT ATAXIA; cerebellar DYSARTHRIA, slowed SACCADES, ocular dysmetria, and HYPERREFLEXIA. Mutations in the PRKCG gene have been identified. OMIM: 605361

Date introduced: August 25, 2010

MeSH Unique ID: C537196

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Entry Terms:

  • SCA14 Spinocerebellar ataxia 14

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