Premium
Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
Author(s) -
Djarmati Ana,
Hedrich Katja,
Svetel Marina,
Lohnau Thora,
Schwinger Eberhard,
Romac Stanka,
Pramstaller Peter P.,
Kostić Vladimir,
Klein Christine
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20977
Subject(s) - pink1 , parkinson's disease , mutation , degenerative disease , central nervous system disease , medicine , genetics , disease , neuroscience , parkin , biology , gene
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.