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Review
. 2006 Feb;162(2):177-84.
doi: 10.1016/s0035-3787(06)74997-9.

[Autosomal recessive cerebellar ataxias with oculomotor apraxia]

[Article in French]
I Le Ber  1 , S Rivaud-Péchoux, A Brice, A Dürr
Affiliations
Review

[Autosomal recessive cerebellar ataxias with oculomotor apraxia]

[Article in French]
I Le Ber et al. Rev Neurol (Paris). 2006 Feb.

Abstract

Introduction: 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.

State of the art: 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.

Conclusion: 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.

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