进行性肌阵挛性共济失调：是否需要新的定义？
Progressive myoclonus ataxia: Time for a new definition?
机构信息
University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, The Netherlands.
Haga Ziekenhuis (Haga Hospital), Department of Neurology, The Hague, The Netherlands.
出版信息
Mov Disord. 2018 Aug;33(8):1281-1286. doi: 10.1002/mds.27412. Epub 2018 Aug 25.
BACKGROUND
The clinical demarcation of the syndrome progressive myoclonus ataxia is unclear, leading to a lack of recognition and difficult differentiation from other neurological syndromes.
OBJECTIVES
The objective of this study was to apply a refined definition of progressive myoclonus ataxia and describe the clinical characteristics in patients with progressive myoclonus ataxia and with isolated cortical myoclonus.
METHODS
A retro- and prospective analysis was performed in our tertiary referral center between 1994 and 2014. Inclusion criteria for progressive myoclonus ataxia patients were the presence of myoclonus and ataxia with or without infrequent (all types, treatment responsive) epileptic seizures. Inclusion criteria for isolated cortical myoclonus was the presence of isolated cortical myoclonus. Clinical and electrophysiological characteristics data were systematically scored.
RESULTS
A total of 14 progressive myoclonus ataxia patients (males, 7; females, 7), median age 14.5 years, and 8 isolated cortical myoclonus patients (males, 2; females, 6), median age 23.5 years, were identified. In 93% of the progressive myoclonus ataxia patients, ataxia started first (median 2 years) followed by myoclonus (4 years) and finally infrequent epilepsy (9.3 years), with a progressive course in 93%. In 64% of the progressive myoclonus ataxia patients, a genetic underlying etiology was identified, including 3 not earlier reported causative progressive myoclonus ataxia genes. In isolated cortical myoclonus patients, myoclonus started at (median) 12 years with progression over time in 63% and a single epileptic seizure in 1 patient. No genetic causes were identified.
CONCLUSION
Using a refined definition, we could create a rather homogenous progressive myoclonus ataxia group. Patients with isolated cortical myoclonus have a different course and do not appear to evolve in progressive myoclonus ataxia. The refined progressive myoclonus ataxia definition is a successful first step toward creating a separate syndrome for both clinical practice and future genetic research. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
背景
进行性肌阵挛性共济失调的临床界限不明确，导致识别不足，难以与其他神经综合征区分。
目的
本研究旨在应用改良的进行性肌阵挛性共济失调定义，并描述进行性肌阵挛性共济失调和孤立性皮质肌阵挛患者的临床特征。
方法
在我们的三级转诊中心进行了回顾性和前瞻性分析，时间为 1994 年至 2014 年。进行性肌阵挛性共济失调患者的纳入标准为存在肌阵挛和共济失调，伴有或不伴有罕见（所有类型，治疗反应）癫痫发作。孤立性皮质肌阵挛的纳入标准为存在孤立性皮质肌阵挛。系统地对临床和电生理特征数据进行评分。
结果
共确定了 14 例进行性肌阵挛性共济失调患者（男性 7 例，女性 7 例），中位年龄为 14.5 岁，8 例孤立性皮质肌阵挛患者（男性 2 例，女性 6 例），中位年龄为 23.5 岁。在 93%的进行性肌阵挛性共济失调患者中，首先出现共济失调（中位年龄 2 年），其次是肌阵挛（4 年），最后是罕见癫痫（9.3 年），病程呈进行性发展（93%）。在 64%的进行性肌阵挛性共济失调患者中，发现了遗传基础病因，包括 3 种以前未报道的进行性肌阵挛性共济失调的致病基因。在孤立性皮质肌阵挛患者中，肌阵挛始于（中位数）12 岁，随着时间的推移，63%的患者病情进展，1 例患者出现单次癫痫发作。未发现遗传原因。
结论
使用改良定义，我们可以创建一个相当同质的进行性肌阵挛性共济失调组。孤立性皮质肌阵挛患者的病程不同，似乎不会进展为进行性肌阵挛性共济失调。改良的进行性肌阵挛性共济失调定义是朝着为临床实践和未来遗传研究创建单独综合征迈出的成功第一步。
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