spinocerebellar ataxia type 5

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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.
References in periodicals archive ?
Mutations in the spectrin beta nonerythrocytic 2 gene ( SPTBN2 ) are known to cause SCA5, six of which have been reported, including three missense mutations and three deletion mutations.
We presented a case of SCA5 with a missense mutation in the SPTBN2 gene, which is a rare case reported worldwide.
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: A clinical and genetic study.
In vitro antimicrobial, antioxidant and cytotoxic properties of Streptomyces lavendulae strain SCA5.
Indeed, in January 2014, the California State Senate passed bill SCA5, which would repeal 209's ban on race, ethnicity and gender as a consideration for public college admission.
It doesn't create more space in our colleges and universities," Anderson said of SCA5.