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Les ataxies cérébelleuses autosomiques récessives avec apraxie oculomotrice
LE BER I; RIVAUD PECHOUX S; BRICE A; DURR A
REV NEUROL (Paris) , 2006, vol. 162, n° 2, p. 177-184 Doc n°: 125965 Localisation : Documentation IRR Descripteurs : AD34 - TROUBLES DE LA COORDINATION, AD62 - APRAXIE - DYSPRAXIE - ATAXIE 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. 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. Langue : FRANCAIS |
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