New autosomal recessive cerebellar ataxias with oculomotor apraxia.
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.
Le Ber
Isabelle
I
INSERM U679, Hôpital Pitié-Salpétriêre, 47 boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
Brice
Alexis
A
Dürr
Alexandra
A
D002524:Cerebellar Ataxia / Q000150:complications* / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000145:classification / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000145:classification / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000150:complications* / Q000235:genetics*
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins