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早发性常染色体隐性帕金森病中DJ-1突变的筛查

Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.

作者信息

Ibáñez P, De Michele G, Bonifati V, Lohmann E, Thobois S, Pollak P, Agid Y, Heutink P, Dürr A, Brice A

机构信息

INSERM U289, Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, Paris, France.

出版信息

Neurology. 2003 Nov 25;61(10):1429-31. doi: 10.1212/01.wnl.0000094121.48373.fd.

Abstract

The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified.

摘要

DJ-1基因被确定为两个家族(PARK7)中早发性常染色体隐性帕金森病的致病基因。在本研究中,作者在排除帕金森病基因的突变后,对一系列早发性常染色体隐性帕金森病家族以及来自不同地理区域的近亲隔离患者进行了DJ-1基因突变筛查。未发现突变。这表明PARK7不是早发性常染色体隐性帕金森病的常见基因座,并且仍有待确定一个或多个新的基因座。

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