Familial Parkinsonism with digenic parkin and PINK1 mutations.

  title={Familial Parkinsonism with digenic parkin and PINK1 mutations.},
  author={Manabu Funayama and Yuanzhe Li and Tak-hong Tsoi and C. Q. Lam and T. Ohi and Shogo Yazawa and Eiichiro Uyama and Ruth Djaldetti and Eldad Melamed and Hiroyo Yoshino and Yoko Imamichi and Hiroshi Takashima and Kenya Nishioka and Kenichi Sato and Hiroyuki Tomiyama and Shin-ichiro Kubo and Yoshikuni Mizuno and Nobutaka Hattori},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  volume={23 10},
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… CONTINUE READING

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