Neuropathology of Parkinson's Disease with the R1441G Mutation in LRRK2

被引：56

作者：

Marti-Masso, Jose-Felix ^{[1
,2
]}

Ruiz-Martinez, Javier ^{[1
,2
]}

Bolano, Maria J. ^{[1
]}

Ruiz, Irune ^{[3
]}

Gorostidi, Ana ^{[4
]}

Moreno, Fermin ^{[1
]}

Ferrer, Isidre ^{[2
]}

Lopez de Munain, Adolfo ^{[1
,2
]}

机构：

[1] Hosp Donostia, Dept Neurol, San Sebastian, Gipuzkoa, Spain

[2] Inst Salud Carlos III, CIBERNED, Madrid, Spain

[3] Hosp Donostia, Dept Pathol Anat, San Sebastian, Gipuzkoa, Spain

[4] Hosp Donostia, Neurogenet Lab, San Sebastian, Gipuzkoa, Spain

来源：

MOVEMENT DISORDERS | 2009年 / 24卷 / 13期

关键词：

Parkinson's disease; LRRK2; dardarin; neuropathology; DARDARIN; GENE;

D O I：

10.1002/mds.22677

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report the neuropathological findings in a patient with Parkinson's disease (PD) associated with Basque R1441G-LRRK2/dardarin mutation. The patient was a man with disease onset at 68 years of age, with unilateral rest tremor; the Parkinsonism was well controlled with medication for 15 years. He died at the age of 86, after 18 years of evolution. The neuropathological examination disclosed mild neuronal loss in the substantia nigra pars compacta without alpha-synuclein, tau, LRRK2, or ubiquitin cytoplasmic inclusions. Lewy bodies and Lewy neurites were absent. This is the first neuropathological study of PD associated with brain with the R1441G mutation in LRRK2. (C) 2009 Movement Disorder Society

引用

页码：1998 / 2001

页数：4

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