Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands.
Department of Neurology, University of the Witwatersrand, University of the Witwatersrand Donald Gordon Medical Center, 18 Eton Road, Parktown, Johannesburg, South Africa; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.
Parkinsonism Relat Disord. 2020 Mar;72:44-48. doi: 10.1016/j.parkreldis.2020.02.005. Epub 2020 Feb 18.
In 2011, a homozygous mutation in GOSR2 (c.430G > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 patients have been reported in literature. Here, we provide a detailed description of clinical and neurophysiological data of seventeen patients.
We collected clinical and neurophysiological data from the medical records of seventeen NSPME patients (5-46 years). In addition, we conducted an interview focused on factors influencing myoclonus severity.
The core clinical features of NSPME are early-onset ataxia, myoclonus and seizures, with additionally areflexia and scoliosis. Factors such as fever, illness, heat, emotions, stress, noise and light (flashes) all exacerbated myoclonic jerks. Epilepsy severity ranged from the absence of or incidental clinical seizures to frequent daily seizures and status epilepticus. Some patients made use of a wheelchair during their first decade, whereas others still walked independently during their third decade. Neurophysiological features suggesting neuromuscular involvement in NSPME were variable, with findings ranging from indicative of sensory neuronopathy and anterior horn cell involvement to an isolated absent H-reflex.
Although the sequence of symptoms is rather homogeneous, the severity of symptoms and rate of progression varied considerably among individual patients. Common triggers for myoclonus can be identified and myoclonus is difficult to treat; to what extent neuromuscular involvement contributes to the phenotype remains to be further elucidated.
2011 年，报道了 GOSR2 基因（c.430G>T；p.Gly144Trp）纯合突变是早发性共济失调伴进行性肌阵挛性癫痫（PME）的一个新的致病原因。有趣的是，患者的祖先来自北海周边国家，因此该疾病被称为北海 PME（NSPME）。到目前为止，文献中仅报道了 20 例患者。在此，我们详细描述了 17 例 NSPME 患者的临床和神经生理数据。
我们从 17 例 NSPME 患者（5-46 岁）的病历中收集了临床和神经生理数据。此外，我们还进行了一次聚焦于影响肌阵挛严重程度因素的访谈。
NSPME 的核心临床特征是早发性共济失调、肌阵挛和癫痫发作，此外还伴有反射消失和脊柱侧凸。发热、疾病、热、情绪、压力、噪音和光（闪光）等因素均使肌阵挛性抽搐恶化。癫痫发作的严重程度从无临床发作或偶发性发作到每日频繁发作和癫痫持续状态不等。一些患者在其第一个十年期间需要使用轮椅，而其他患者在其第三个十年期间仍能独立行走。提示 NSPME 存在神经肌肉受累的神经生理特征存在差异，从提示感觉神经元病和前角细胞受累到单纯 H 反射消失不等。
尽管症状的顺序相当一致，但症状的严重程度和进展速度在个体患者之间差异很大。可以确定肌阵挛的常见诱因，且肌阵挛的治疗较为困难；神经肌肉受累在多大程度上导致表型仍有待进一步阐明。
