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Article

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.

Iranian biomedical journal - 1 Jan 2012

Nouri Nayereh, Nouri Narges, Aryani Omid, Kamalidehghan Behnam, Sedghi Maryam, Houshmand Massoud

Abstract excerpt

BACKGROUND: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. METHODS: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decreased albumin...

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Source

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Identifiers

PMID: 23183622
DOI: 10.6091/ibj.1077.2012
PMCID: PMC3600965

Genes

APTX

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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