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.

Farlex Partner Medical Dictionary © Farlex 2012

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.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.