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Article

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.

Journal of the neurological sciences - 15 Sept 2007

Ferrarini Moreno, Squintani Giovanna, Cavallaro Tiziana, Ferrari Sergio, Rizzuto Nicolo', Fabrizi Gian Maria

Abstract excerpt

Ataxia oculomotor apraxia type 1 (AOA1) is the most common form of autosomal recessive ataxia in Japan, and the second in Portugal after Friedreich ataxia. AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hypercholesterolemia and late axonal sensori-motor neuropathy. AOA1 is associated with the aprataxin gene (APTX) encoding a protein involved in DNA repair....

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Identifiers

PMID: 17572444
DOI: 10.1016/j.jns.2007.05.015

Genes

APTX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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