spinocerebellar ataxia with axonal neuropathy

ataxic disorder with polyneuropathy that is related to mutations in a DNA repair gene, tyrosyl-DNA phosphodiesterase.

spinocerebellar ataxia with axonal neuropathy

An autosomal recessive cerebellar ataxia (OMIM:607250) characterised by peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait (as seen in Charcot-Marie-Tooth neuropathy), with normal IQs.
Molecular pathology
Defects of TDP1, which encodes a DNA repair enzyme, cause spinocerebellar ataxia with axonal neuropathy.

单词	spinocerebellar ataxia with axonal neuropathy
释义	spinocerebellar ataxia with axonal neuropathy spinocerebellar ataxia with axonal neuropathy ataxic disorder with polyneuropathy that is related to mutations in a DNA repair gene, tyrosyl-DNA phosphodiesterase. spinocerebellar ataxia with axonal neuropathy An autosomal recessive cerebellar ataxia (OMIM:607250) characterised by peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait (as seen in Charcot-Marie-Tooth neuropathy), with normal IQs. Molecular pathology Defects of TDP1, which encodes a DNA repair enzyme, cause spinocerebellar ataxia with axonal neuropathy.
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