Familial Parkinsonism with digenic parkin and PINK1 mutations.
To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders.
Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Bunkyo-Ku, Tokyo, Japan.
Manabu
M
Funayama
Yuanzhe
Y
Li
Tak-Hong
TH
Tsoi
Ching-Wan
CW
Lam
Takekazu
T
Ohi
Shogo
S
Yazawa
Eiichiro
E
Uyama
Ruth
R
Djaldetti
Eldad
E
Melamed
Hiroyo
H
Yoshino
Yoko
Y
Imamichi
Hiroshi
H
Takashima
Kenya
K
Nishioka
Kenichi
K
Sato
Hiroyuki
H
Tomiyama
Shin-Ichiro
S
Kubo
Yoshikuni
Y
Mizuno
Nobutaka
N
Hattori
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D017354:Point Mutation; D011494:Protein Kinases / Q000235:genetics*; D012559:Schizophrenia / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
D011494:Protein Kinases; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein