A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations

被引：137

作者：

Zabetian, CP

Samii, A

Mosley, AD

Roberts, JW

Leis, BC

Yearout, D

Raskind, WH

Griffith, A

机构：

[1] VA Puget Sound Hlth Care Syst, Geriat Res Educ & Clin Ctr, Seattle, WA 98108 USA

[2] VA Puget Sound Hlth Care Syst, NW Parkinsons Dis Ctr, Seattle, WA 98108 USA

[3] VA Puget Sound Hlth Care Syst, Mental Illness Res Educ & Clin Ctr, Seattle, WA 98108 USA

[4] Univ Washington, Sch Med, Dept Neurol, Seattle, WA USA

[5] Univ Washington, Sch Med, Dept Med, Seattle, WA USA

[6] Univ Washington, Sch Med, Dept Psychiat & Behav Sci, Seattle, WA USA

[7] Virginia Mason Med Ctr, Seattle, WA USA

[8] Evergreen Hosp, Med Ctr, Kirkland, WA USA

来源：

NEUROLOGY | 2005年 / 65卷 / 05期

关键词：

D O I：

10.1212/01.WNL.0000172630.22804.73

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Referral-based studies indicate that a mutation (G2019S) in exon 41 of the LRRK2 gene might be a common cause of Parkinson disease (PD). The authors sequenced leucine-rich repeat kinase 2 (LRRK2) exons 31, 35, and 41 in 371 consecutively recruited patients with PD and found mutations in six (1.6%) subjects, including two heterozygous for new putative pathogenic variants (R1441H, IVS31 + 3A -> G). These data confirm the important contribution of LRRK2 to PD susceptibility in a clinic-based population.

引用

页码：741 / 744

页数：4

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