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Article

[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia].

Revue neurologique - 1 Mar 2005

Ochsner F, Le Ber I, Said G, Moreira M-C, Michel P, Koenig M, Dürr A, Brice A, Kuntzer T

Abstract excerpt

BACKGROUND: Phenotype-genotype correlations, generally based on predominant associated signs, are being increasingly used to distinguish different types of autosomal recessive cerebellar ataxias (ARCA). CASE REPORTS: Two brothers developed signs of cerebellar ataxia with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy....

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Source

Identifiers

PMID: 15800456
DOI: 10.1016/s0035-3787(05)85041-6

Genes

APTX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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