Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
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.
Djarmati
Ana
A
Department of Neurology, University of Lübeck, Lübeck, Germany.
Hedrich
Katja
K
Svetel
Marina
M
Lohnau
Thora
T
Schwinger
Eberhard
E
Romac
Stanka
S
Pramstaller
Peter P
PP
Kostić
Vladimir
V
Klein
Christine
C
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005858:Germany; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009460:Neurologic Examination; D015513:Oncogene Proteins / Q000235:genetics; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D015022:Yugoslavia; D000099202:PTEN-Induced Putative Kinase
D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein; C105131:PARK7 protein, human