Familial parkinsonism with digenic Parkin and PINK1 mutations

被引：45

作者：

Funayama, Manabu ^{[1
]}

Li, Yuanzhe ^{[2
]}

Tsoi, Tak-Hong ^{[3
]}

Lam, Ching-Wan ^{[4
]}

Ohi, Takekazu ^{[5
]}

Yazawa, Shogo ^{[6
]}

Uyama, Eiichiro ^{[7
]}

Djaldetti, Ruth ^{[8
,9
]}

Melamed, Eldad ^{[8
,9
]}

Yoshino, Hiroyo ^{[1
]}

Imamichi, Yoko ^{[2
]}

Takashima, Hiroshi ^{[10
]}

Nishioka, Kenya ^{[2
]}

Sato, Kenichi ^{[11
]}

Tomiyama, Hiroyuki

Kubo, Shin-Ichiro ^{[2
]}

Mizuno, Yoshikuni ^{[1
]}

Hattori, Nobutaka ^{[1
,2
]}

机构：

[1] Juntendo Univ, Sch Med, Res Inst Dis Old Age, Bunkyo Ku, Tokyo 1138421, Japan

[2] Juntendo Univ, Sch Med, Dept Neurol, Bunkyo Ku, Tokyo 1138421, Japan

[3] Pamela Youde Nethersole Eastern Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

[4] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China

[5] Kurashiki Cent Hosp, Dept Neurol, Kurashiki, Okayama, Japan

[6] Miyazaki Prefectural Hosp Nobeoka, Dept Neurol, Miyazaki, Japan

[7] Kumamoto Univ, Grad Sch Med Sci, Dept Neurol, Kumamoto, Japan

[8] Rabin Med Ctr, Dept Neurol, Petah Tiqwa, Israel

[9] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

[10] Kagoshima Univ, Sch Med, Dept Neurol & Geriatr, Kagoshima 890, Japan

[11] Juntendo Univ, Nerima Hosp, Dept Neurology, Nerima Ku, Tokyo, Japan

来源：

MOVEMENT DISORDERS | 2008年 / 23卷 / 10期

关键词：

Parkinson's disease; parkin; PINK1; digenic; psychiatric disorder;

D O I：

10.1002/mds.22143

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 PINK-1 mutations might be associated with psychiatric disorders. (C) 2008 Movement Disorder Society.

引用

页码：1461 / 1465

页数：5

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