Familial parkinsonism with digenic Parkin and PINK1 mutations

被引：44

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

共 50 条

[21] Interaction parkin and PINK1
Arai, T.
Shiba, K.
Ooba, Y.
Mastuda, N.
Kubo, S.
Hattori, N.
Mizuno, Y.
MOVEMENT DISORDERS, 2006, 21 : S453 - S453
[22] New perception of mitochondria regulatory pathway in parkinsonism - ubiquitin, PINK1, and parkin
Olszewska, Diana Angelika
Fearon, Conor
Lynch, Tim
FRONTIERS IN NEUROLOGY, 2014, 5
[23] Novel PINK1 mutations in early-onset parkinsonism
Hatano, Y
Li, YZ
Sato, K
Asakawa, S
Yamamura, Y
Tomiyama, H
Yoshino, H
Asahina, M
Kobayashi, S
Hassin-Baer, S
Lu, CS
Ng, AR
Rosales, RL
Shimizu, N
Toda, T
Mizuno, Y
Hattori, N
ANNALS OF NEUROLOGY, 2004, 56 (03) : 424 - 427
[24] PINK1 and FLNA mutations association: A role for atypical parkinsonism?
Degos, Bertrand
Toussaint, Aurelie
Lesage, Suzanne
Brice, Alexis
Vidailhet, Marie
Beldjord, Cherif
Catala, Martin
PARKINSONISM & RELATED DISORDERS, 2016, 26 : 78 - 80
[25] Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts
Rakovic, Aleksandar
Gruenewald, Anne
Kottwitz, Jan
Brueggemann, Norbert
Pramstaller, Peter P.
Lohmann, Katja
Klein, Christine
PLOS ONE, 2011, 6 (03):
[26] iPS models of Parkin and PINK1
Rakovic, Aleksandar
Seibler, Philip
Klein, Christine
BIOCHEMICAL SOCIETY TRANSACTIONS, 2015, 43 : 302 - 307
[27] Mechanism of parkin activation by PINK1
Christina Gladkova
Sarah L. Maslen
J. Mark Skehel
David Komander
Nature, 2018, 559 : 410 - 414
[28] Mitophagy: the roles of PINK1 and PARKIN
Tanaka, K.
JOURNAL OF NEUROCHEMISTRY, 2015, 134 : 14 - 14
[29] PINK1 and Parkin: The odd couple
Yoboue, Edgar Djaha
Valente, Enza Maria
NEUROSCIENCE RESEARCH, 2020, 159 : 25 - 33
[30] PINK1 points Parkin to mitochondria
Vives-Bauza, Cristofol
Przedborski, Serge
AUTOPHAGY, 2010, 6 (05) : 674 - 675

← 1 2 3 4 5 →