title: Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
abstract: The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.
authors.affiliation: Department of Neurology, University of Lübeck, Lübeck, Germany.
authors.forename: Anja
authors.initials: A
authors.lastname: Hiller
authors.forename: Johann M
authors.initials: JM
authors.lastname: Hagenah
authors.forename: Ana
authors.initials: A
authors.lastname: Djarmati
authors.forename: Katja
authors.initials: K
authors.lastname: Hedrich
authors.forename: Kathrin
authors.initials: K
authors.lastname: Reetz
authors.forename: Christiane
authors.initials: C
authors.lastname: Schneider-Gold
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kress
authors.forename: Alexander
authors.initials: A
authors.lastname: Münchau
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
mesh_terms: D000328:Adult; D000368:Aged; D002353:Carrier State; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D010641:Phenotype; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase