[Autosomal recessive cerebellar ataxias with oculomotor apraxia].
BACKGROUND
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.


BACKGROUND
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.


CONCLUSIONS
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.
Le Ber
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INSERM U679, Hôpital Pitié-Salpêtrière, Paris.
Rivaud-Péchoux
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S
Brice
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A
Dürr
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A
D001072:Apraxias / Q000150:complications* / Q000235:genetics; D002524:Cerebellar Ataxia / Q000145:classification / Q000150:complications* / Q000235:genetics; D004249:DNA Damage; D004265:DNA Helicases; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D000076228:MRE11 Homologue Protein; D064251:Multifunctional Enzymes; D009687:Nuclear Proteins / Q000235:genetics; D015840:Oculomotor Nerve Diseases / Q000150:complications* / Q000235:genetics; D020365:RNA Helicases / Q000235:genetics
C438188:APTX protein, human; D004268:DNA-Binding Proteins; C121766:MRE11 protein, human; D064251:Multifunctional Enzymes; D009687:Nuclear Proteins; D000076228:MRE11 Homologue Protein; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases