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Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
Journal article   Peer reviewed

Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

A Djarmati, K Hedrich, M Svetel, T Lohnau, E Schwinger, S Romac, Peter P. Pramstaller, V Kostić and C Klein
Movement Disorders, Vol.21(9), pp.1526-1530
21
2006
Handle:
https://hdl.handle.net/10863/6428
PMID: 16755580

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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