Novel PINK1 mutations in early-onset parkinsonism

被引：207

作者：

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

机构：

[1] Juntendo Univ, Sch Med, Dept Neurol, Tokyo 1130033, Japan

[2] Keio Univ, Sch Med, Dept Mol Biol, Tokyo, Japan

[3] Hiroshima Univ, Sch Med, Inst Hlth Sci, Hiroshima, Japan

[4] Chiba Univ, Grad Sch Med, Dept Neurol, Chiba, Japan

[5] Kitano Hosp, Tazuke Kofukai Med Res Inst, Dept Neurol, Osaka, Japan

[6] Chaim Sheba Med Ctr, Parkinsons Dis & Movement Disorders Clin, Dept Neurol, IL-52621 Tel Hashomer, Israel

[7] Chang Gung Mem Hosp, Dept Neurol 1, Movement Disorders Unit, Taipei 10591, Taiwan

[8] Kagoshima Univ, Sch Med, Dept Internal Med 3, Kagoshima 890, Japan

[9] Univ St Thomas, Fac Med & Surg, Dept Neurol & Psychiat, Manila, Philippines

[10] Osaka Univ, Grad Sch Med, Div Funct Genom, Suita, Osaka, Japan

[11] Japan Sci & Technol Corp, CREST, Kawaguchi, Saitama, Japan

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 03期

关键词：

D O I：

10.1002/ana.20251

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.

引用

页码：424 / 427

页数：4

共 7 条

[1] Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
Bonifati, V
Rizzu, P
van Baren, MJ
Schaap, O
Breedveld, GJ
Krieger, E
Dekker, MCJ
Squitieri, F
Ibanez, P
Joosse, M
van Dongen, JW
Vanacore, N
van Swieten, JC
Brice, A
Meco, G
van Duijn, CM
Oostra, BA
Heutink, P
[J]. SCIENCE, 2003, 299 (5604) : 256 - 259
[2] HATANO Y, IN PRESS NEUROLOGY
[3] DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
Hedrich, K
Djarmati, A
Schäfer, N
Hering, R
Wellenbrock, C
Weiss, PH
Hilker, R
Vieregge, P
Ozelius, LJ
Heutink, P
Bonifati, V
Schwinger, E
Lang, AE
Noth, J
Bressman, SB
Pramstaller, PP
Riess, O
Klein, C
[J]. NEUROLOGY, 2004, 62 (03) : 389 - 394
[4] Oxidative stress in Parkinson's disease
Jenner, P
[J]. ANNALS OF NEUROLOGY, 2003, 53 : S26 - S36
[5] Association between early-onset Parkinson's disease and mutations in the parkin gene
Lücking, CB
Dürr, A
Bonifati, V
Vaughan, J
De Michele, G
Gasser, T
Harhangi, BS
Meco, G
Denèfle, P
Wood, NW
Agid, Y
Brice, A
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2000, 342 (21) : 1560 - 1567
[6] Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway
Unoki, M
Nakamura, Y
[J]. ONCOGENE, 2001, 20 (33) : 4457 - 4465
[7] Hereditary early-onset Parkinson's disease caused by mutations in PINK1
Valente, EM
Abou-Sleiman, PM
Caputo, V
Muqit, MMK
Harvey, K
Gispert, S
Ali, Z
Del Turco, D
Bentivoglio, AR
Healy, DG
Albanese, A
Nussbaum, R
González-Maldonaldo, R
Deller, T
Salvi, S
Cortelli, P
Gilks, WP
Latchman, DS
Harvey, RJ
Dallapiccola, B
Auburger, G
Wood, NW
[J]. SCIENCE, 2004, 304 (5674) : 1158 - 1160

← 1 →