Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease

被引：19

作者：

Kamphuis, DJ

Koelman, H

Lees, AJ

Tijssen, MAJ

机构：

[1] Reinier de Graafgroep, Dept Neurol, NL-2625 AD Delft, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1012 WX Amsterdam, Netherlands

[3] UCL Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England

来源：

MOVEMENT DISORDERS | 2006年 / 21卷 / 01期

关键词：

RDP; dystonia; mutation; genetic; Parkinson;

D O I：

10.1002/mds.20695

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha 3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopaunresponsive parkinsonism even if there is no family history and the classic presentation is lacking. (C) 2005 Movement Disorder Society.

引用

页码：118 / 119

页数：2

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