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在100例早发型帕金森病患者中未发现α-突触核蛋白基因错义突变(G209A)。

Failure to find the alpha-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson's disease.

作者信息

Chan P, Tanner C M, Jiang X, Langston J W

机构信息

Parkinson's Institute, Sunnyvale, CA 94089, USA.

出版信息

Neurology. 1998 Feb;50(2):513-4. doi: 10.1212/wnl.50.2.513.

Abstract

The missense G209A mutation at exon 4 of the alpha-synuclein gene was recently found to be responsible for familial Parkinson's disease (PD) in a large kindred of Italian descent. We studied 100 typical PD patients with onset before age 51, both with and without a family history of PD. We did not find this alpha-synuclein missense mutation in any patient, but it was present in a symptomatic member of the Contursi family.

摘要

最近发现,α-突触核蛋白基因第4外显子的错义G209A突变是导致一个意大利裔大家族患家族性帕金森病(PD)的原因。我们研究了100例51岁之前发病的典型PD患者,其中既有PD家族史的患者,也有没有PD家族史的患者。我们在任何患者中均未发现这种α-突触核蛋白错义突变,但在孔图尔西家族的一名有症状成员中发现了该突变。

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