spinocerebellar ataxia—autosomal recessive—with axonal neuropathy

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spinocerebellar ataxia—autosomal recessive—with axonal neuropathy2016-11-28T05:46:15+00:00

spinocerebellar ataxia—autosomal recessive—with axonal neuropathy

NEUROLOGY

An autosomal recessive form (OMIM:607250) of spinocerebellar ataxia characterised by peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait* with normal intelligence.

*As seen in Charcot-Marie-Tooth neuropathy

Molecular pathology Defects of TDP1, which encodes a DNA repair enzyme, cause spinocerebellar ataxia–autosomal recessive—with axonal neuropathy.

References http://www.uniprot.org/uniprot/Q9NUW8

http://www.omim.org/entry/607250

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