spinocerebellar ataxia type 5

spinocerebellar ataxia type 5

A slowly progressive autosomal dominant form (OMIM:600224) of cerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders in which patients show progressive incoordination of gait and often also of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord; type 5 is of a variable onset between age 10 and 50.

Molecular pathology
Caused by defects of SPTBN2, which encodes a non-erythrocyte beta spectrin that regulates the glutamate signalling pathway.
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