PMID: 16518257Mar 7, 2006Paper

Autosomal recessive cerebellar ataxias with oculomotor apraxia

Revue neurologique
I Le BerAlexandra Durr

Abstract

Autosomal recessive cerebellar ataxias (ARCA) comprise a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia has been delineated. The ataxias with oculomotor apraxia (AOA) include four distinct genetic entities at least: ataxia-telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The responsible genes, ATM, MRE11, APTX and SETX respectively, are implicated in DNA-break repair mechanisms. We describe the phenotypic and genetic characteristics of these ataxias, based on a review of the literature and a personal study of AOA1 and AOA2 patients.

Citations

Jul 21, 2009·Muscle & Nerve·José GazullaMichel Koenig
Jan 21, 2018·Neurology·Elizabeth A Coon, Eduardo E Benarroch

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