Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.
The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care.
Zadikoff
Cindy
C
Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada.
Rogaeva
Ekaterina
E
Djarmati
Ana
A
Sato
Christine
C
Salehi-Rad
Shabnam
S
St George-Hyslop
Peter
P
Klein
Christine
C
Lang
Anthony E
AE
D000328:Adult; D018389:Codon, Nonsense; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
D018389:Codon, Nonsense; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase