Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
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.
Hiller
Anja
A
Department of Neurology, University of Lübeck, Lübeck, Germany.
Hagenah
Johann M
JM
Djarmati
Ana
A
Hedrich
Katja
K
Reetz
Kathrin
K
Schneider-Gold
Christiane
C
Kress
Wolfgang
W
Münchau
Alexander
A
Klein
Christine
C
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
D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase