G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

被引：83

作者：

Bras, JM

Guerreiro, RJ

Ribeiro, MH

Januario, C

Morgadinho, A

Oliveira, CR

Cunha, L

Hardy, J

Singleton, A

机构：

[1] NIA, Neurogenet Lab, Porter Neurosci Ctr, NIH, Rockville, MD 20852 USA

[2] Coimbra Univ Hosp, Neurol Serv, Coimbra, Portugal

[3] Univ Coimbra, Fac Med, Inst Biochem, Ctr Neurosci & Cell Biol, Coimbra, Portugal

来源：

MOVEMENT DISORDERS | 2005年 / 20卷 / 12期

关键词：

LRRK2; dardarin; PARK8; Parkinson's disease;

D O I：

10.1002/mds.20682

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. (c) 2005 Movement Disorder Society.

引用

页码：1653 / 1655

页数：3

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