Djarmati Ana, Hedrich Katja, Svetel Marina, Lohnau Thora, Schwinger Eberhard, Romac Stanka, Pramstaller Peter P, Kostić Vladimir, Klein Christine
Department of Neurology, University of Lübeck, Lübeck, Germany.
Mov Disord. 2006 Sep;21(9):1526-30. doi: 10.1002/mds.20977.
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.
PINK1基因突变会导致隐性遗传的早发性帕金森病（EOPD）。我们对75名塞尔维亚和17名南蒂罗尔早发性帕金森病患者进行了该基因突变的全面检测，发现了三名杂合突变携带者。其中两名患者与其患病亲属存在相同突变，这进一步表明PINK1基因杂合突变可能是早发性帕金森病的一个易感因素。
