New autosomal recessive cerebellar ataxias with oculomotor apraxia

doi:10.1007/s11910-005-0066-4

Review

. 2005 Sep;5(5):411-7.

doi: 10.1007/s11910-005-0066-4.

New autosomal recessive cerebellar ataxias with oculomotor apraxia

Isabelle Le Ber¹, Alexis Brice, Alexandra Dürr

Affiliations

PMID: 16131425
DOI: 10.1007/s11910-005-0066-4

Review

New autosomal recessive cerebellar ataxias with oculomotor apraxia

Isabelle Le Ber et al. Curr Neurol Neurosci Rep. 2005 Sep.

. 2005 Sep;5(5):411-7.

doi: 10.1007/s11910-005-0066-4.

Authors

Isabelle Le Ber¹, Alexis Brice, Alexandra Dürr

Affiliation

¹ INSERM U679, Hôpital Pitié-Salpétriêre, 47 boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

PMID: 16131425
DOI: 10.1007/s11910-005-0066-4

Abstract

Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia (AOA) has been delineated. It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The phenotypes share several similarities, and the responsible genes, ATM, MRE11, APTX, and SETX, respectively, are all implicated in DNA break repair. As in many other DNA repair deficiencies, neurodegeneration is a hallmark of these diseases. Recently, the genes for two new autosomal recessive cerebellar ataxias with oculomotor apraxia, AOA1 and AOA2, were identified. Here, we report the phenotypic characteristics, genetic characteristics, and the recent advances concerning AOA1 and AOA2.

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[1] Eur Neurol. 2000;43(2):82-7 - PubMed

[2] Eur Neurol. 2000;43(2):82-7 - PubMed

[3] DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1219-25 - PubMed

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[6] Neurology. 2004 Dec 14;63(11):2173-5 - PubMed

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[8] Nat Genet. 2004 Mar;36(3):225-7 - PubMed

[9] Cell. 1999 Dec 10;99(6):577-87 - PubMed

[10] Cell. 1999 Dec 10;99(6):577-87 - PubMed

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New autosomal recessive cerebellar ataxias with oculomotor apraxia

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