An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family

被引：213

作者：

Funayama, M

Hasegawa, K

Ohta, E

Kawashima, N

Komiyama, M

Kowa, H

Tsuji, S

Obata, F

机构：

[1] Kitasato Univ, Sch Allied Hlth Sci, Dept Immunol, Sagamihara, Kanagawa 2288555, Japan

[2] Univ Tokyo, Dept Neurol, Tokyo, Japan

[3] Kawashima Neurol Clin, Fujisawa, Kanagawa, Japan

[4] Sagamihara Natl Hosp, Dept Neurol, Natl Hosp Org, Sagamihara, Kanagawa, Japan

[5] Kitasato Univ, Grad Sch Med Sci, Div Clin Immunol, Sagamihara, Kanagawa 2288555, Japan

来源：

ANNALS OF NEUROLOGY | 2005年 / 57卷 / 06期

关键词：

D O I：

10.1002/ana.20484

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We detected a missense mutation in the kinase domain of the LRRK2 gene in members with autosomal dominant Parkinson's disease of the Japanese family (the Sagamihara family) who served as the basis for the original defining of the PARK8 Parkinson's disease locus. The results of the Sagamihara family, in combination with the unique pathological features characterized by pure nigral degeneration without Lewy bodies, provided us with valuable information for elucidating the protein structure-pathogenesis relationship for the gene product of LRRK2. We did not detect this mutation or other known mutations of the LRRK2 gene in Japanese patients with sporadic Parkinson's disease.

引用

页码：918 / 921

页数：4

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