Heterozygous PINK1 mutations:: A susceptibility factor for Parkinson disease?

被引：35

作者：

Djarmati, Ana

Hedrich, Katja

Svetel, Marina

Lohnau, Thora

Schwinger, Eberhard

Romac, Stanka

Pramstaller, Peter P.

Kostic, Vladimir

Klein, Christine

机构：

[1] Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany

[2] Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

[3] Univ Belgrade, Fac Biol, Belgrade, Serbia

[4] Univ Belgrade, Sch Med, Dept Neurol, Belgrade, Serbia

[5] Cent Hosp, Dept Neurol, Bolzano, Italy

[6] EURAC Res, Inst Med Genet, Bolzano, Italy

来源：

MOVEMENT DISORDERS | 2006年 / 21卷 / 09期

关键词：

early-onset Parkinson's disease; PINK1; PARK6; heterozygous mutations; Serbia; South Tyrol;

D O I：

10.1002/mds.20977

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

PINK1 mutations cause recessively inherited early-onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation carriers. Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a susceptibility factor for EOPD. (c) 2006 Movement Disorder Society.

引用

页码：1526 / 1530

页数：5

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