title: Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
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.
authors.affiliation: Department of Neurology, University of Lübeck, Lübeck, Germany.
authors.forename: Ana
authors.initials: A
authors.lastname: Djarmati
authors.forename: Katja
authors.initials: K
authors.lastname: Hedrich
authors.forename: Marina
authors.initials: M
authors.lastname: Svetel
authors.forename: Thora
authors.initials: T
authors.lastname: Lohnau
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.forename: Stanka
authors.initials: S
authors.lastname: Romac
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostić
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
mesh_terms: 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
chemical_list: 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