spinocerebellar ataxia 14

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spinocerebellar ataxia 142016-11-28T05:38:08+00:00

spinocerebellar ataxia 14

NEUROLOGY

An autosomal dominant form (OMIM:605361) of spinocerebellar ataxia*.

*Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders characterised by progressive incoordination of gait and often incoordination of hands, speech and eye movements, due to degeneration of the cerebellum, variably accompanied by brainstem and spinal cord involvement.

Molecular pathology Defects of PRKCG, which encodes a serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, cause spinocerebellar ataxia 14. 

References http://www.uniprot.org/uniprot/P05129

http://www.omim.org/entry/605361

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