朊病毒疾病会引起一系列涉及皮质的运动障碍,锥体外系,和小脑系统,然而,还没有对其患病率进行大规模的系统研究,特点,协会,以及对常用治疗方法的反应。
我们试图描述朊病毒疾病中运动障碍的自然史和药理学管理。
我们研究了系列检查结果,调查结果,并记录了2008年至2020年纳入前瞻性纵向国家朊病毒监测队列研究的700例朊病毒疾病患者和51例模拟患者的对症治疗。我们进行了一项分析,以确定是否存在与疾病病因相关的运动障碍模式,PRNP密码子129多态性,疾病严重程度评定量表,磁共振成像(MRI)和脑脊液(CSF)的发现。
步态紊乱,肌阵鸣,和增加的音调是最常见的运动障碍患者的朊病毒疾病。早期运动功能障碍的典型模式包括步态障碍,肢体共济失调,受损的平滑追求,肌阵鸣,震颤,和增加肢体的音调。步态紊乱,增加音调,随着疾病的进展,肌阵挛症变得更加普遍和严重。Chorea,异形肢体现象,眼球震颤是最不常见的运动障碍,这些症状在大约一半的有症状的患者中表现出自发消退。疾病严重程度和PRNP密码子129多态性与不同运动障碍表型相关。发现抗癫痫药和苯二氮卓类药物可有效治疗肌阵挛症。
我们描述了患病率,严重程度,进化,治疗,以及基于前瞻性队列研究的朊病毒疾病运动障碍的相关特征。©2022作者由WileyPeriodicalsLLC代表国际帕金森症和运动障碍协会出版的运动障碍。
Prion diseases cause a range of movement disorders involving the cortical, extrapyramidal, and cerebellar systems, and yet there are no large systematic studies of their prevalence, features, associations, and responses to commonly used treatments.
We sought to describe the natural history and pharmacological management of movement disorders in
prion diseases.
We studied the serial examination findings, investigation results, and symptomatic treatment recorded for 700 patients with prion diseases and 51 mimics who had been enrolled onto the prospective longitudinal National
Prion Monitoring Cohort
study between 2008 and 2020. We performed an analysis to identify whether there were patterns of movement disorders associated with disease aetiology, PRNP codon 129 polymorphism, disease severity rating scales, magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) findings.
Gait disturbances, myoclonus, and increased tone are the most frequently observed movement disorders in patients with prion diseases. The typical pattern of early motor dysfunction involves gait disturbance, limb ataxia, impaired smooth pursuit, myoclonus, tremor, and increased limb tone. Disturbances of gait, increased tone, and myoclonus become more prevalent and severe as the disease progresses. Chorea, alien limb phenomenon, and nystagmus were the least frequently observed movement disorders, with these symptoms showing spontaneous resolution in approximately half of symptomatic patients. Disease severity and PRNP codon 129 polymorphism were associated with different movement disorder phenotypes. Antiepileptics and benzodiazepines were found to be effective in treating myoclonus.
We describe the prevalence, severity, evolution, treatment, and associated features of movement disorders in prion diseases based on a prospective cohort
study. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.