Familial Parkinsonism with digenic parkin and PINK1 mutations

✍ Scribed by Manabu Funayama; Yuanzhe Li; Tak-Hong Tsoi; Ching-Wan Lam; Takekazu Ohi; Shogo Yazawa; Eiichiro Uyama; Ruth Djaldetti; Eldad Melamed; Hiroyo Yoshino; Yoko Imamichi; Hiroshi Takashima; Kenya Nishioka; Kenichi Sato; Hiroyuki Tomiyama; Shin-Ichiro Kubo; Yoshikuni Mizuno; Nobutaka Hattori

• Book ID: 102503929
• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 418 KB
• Volume: 23
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.22143

✦ Synopsis

Abstract

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 withpsychiatric disorders. © 2008 Movement Disorder Society