SCA-5 (SPINOCEREBELLAR ATAXIA): SPTBN2 GENE MUTATION

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SCA-5 (SPINOCEREBELLAR ATAXIA): SPTBN2 GENE MUTATION

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CEREBELLAR ATAXIA HAVE VARIABLE INVOLVEMENT OF THE BRAINSTEM AND SPINAL CORD, AND THE CLINICAL FEATURES OF THE DISORDERS ARE CAUSED BY DEGENERATION OF THE CEREBELLUM AND ITS AFFERENT AND EFFERENT CONNECTIONS, WHICH INVOLVE THE BRAINSTEM AND SPINAL CORD. SPINOCEREBELLAR ATAXIA-5 (SCA5) IS CAUSED BY HETEROZYGOUS MUTATION IN THE SPTBN2 GENE ON CHROMOSOME 11Q13. THIS TEST IS SPECIFIC FOR SPTBN2 GENE HOTSPOT (EXON 12) LOCUS.

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