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. 2006 Sep;21(9):1526-30.
doi: 10.1002/mds.20977.

Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

Ana Djarmati  1 , Katja Hedrich, Marina Svetel, Thora Lohnau, Eberhard Schwinger, Stanka Romac, Peter P Pramstaller, Vladimir Kostić, Christine Klein
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Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

Ana Djarmati et al. Mov Disord. 2006 Sep.

Abstract

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.

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