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

被引：31

作者：

Ibáñez, P

De Michele, G

Bonifati, V

Lohmann, E

Thobois, S

Pollak, P

Agid, Y

Heutink, P

Dürr, A

Brice, A

机构：

[1] Hop La Pitie Salpetriere, INSERM, U289, F-75651 Paris 13, France

[2] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Embryol, U289, F-75651 Paris 13, France

[3] Univ Naples Federico II, Dept Neurol Sci, Naples, Italy

[4] Erasmus MC, Dept Clin Genet, Genet Epidemiol Unit, Rotterdam, Netherlands

[5] Erasmus MC, Dept Epidemiol & Biostat, Genet Epidemiol Unit, Rotterdam, Netherlands

[6] Univ Roma La Sapienza, Dept Neurol Sci, Rome, Italy

[7] Hop La Pitie Salpetriere, CHU Pitie Salpetriere, Paris, France

[8] Hop Pierre Wertheimer, Serv Neurol, Dept Neurol, Lyon, France

[9] CHU Grenoble, Serv Neurol, Dept Clin & Biol Neurosci, Grenoble, France

来源：

NEUROLOGY | 2003年 / 61卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000094121.48373.FD

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1429 / 1431

页数：4

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