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.
Funayama
Manabu
M
Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Bunkyo-Ku, Tokyo, Japan.
Li
Yuanzhe
Y
Tsoi
Tak-Hong
TH
Lam
Ching-Wan
CW
Ohi
Takekazu
T
Yazawa
Shogo
S
Uyama
Eiichiro
E
Djaldetti
Ruth
R
Melamed
Eldad
E
Yoshino
Hiroyo
H
Imamichi
Yoko
Y
Takashima
Hiroshi
H
Nishioka
Kenya
K
Sato
Kenichi
K
Tomiyama
Hiroyuki
H
Kubo
Shin-Ichiro
S
Mizuno
Yoshikuni
Y
Hattori
Nobutaka
N
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