Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

被引：128

作者：

Li, Y

Tomiyama, H

Sato, K

Hatano, Y

Yoshino, H

Atsumi, M

Kitaguchi, M

Sasaki, S

Kawaguchi, S

Miyajima, H

Toda, T

Mizuno, Y

Hattori, N

机构：

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

[2] Baba Mem Hosp, Dept Neurol, Osaka, Japan

[3] Tokyo Womens Med Univ, Dept Neurol, Tokyo, Japan

[4] Jikei Univ Med, Dept Neurol, Tokyo, Japan

[5] Hamamatsu Univ Sch Med, Dept Med 1, Hamamatsu, Shizuoka 43131, Japan

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

来源：

NEUROLOGY | 2005年 / 64卷 / 11期

关键词：

D O I：

10.1212/01.WNL.0000164009.36740.4E

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors performed PINK1 mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1 mutations: one was a homozygous deletion (13516-18118del) and the other a homozygous missense mutation (C388R). Clinically, the patients with the deletion had dementia. Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1 mutations form 8.9% of parkin- and DJ-1-negative ARPD families.

引用

页码：1955 / 1957

页数：3

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