摘要目的:探讨 NUS1基因突变所致进行性肌阵挛癫痫（PME）的临床特点，提高临床医师对该病的认识。 方法:回顾性分析首都医科大学附属北京天坛医院癫痫科2024年5月收治的1例 NUS1基因突变所致PME患者的临床特点，并结合文献，对该病的临床特点、基因检测结果、诊治经验进行总结。 结果:本例患者为男性，28岁，因“头部及双上肢不自主抖动2年”于2024年5月14日就诊于首都医科大学附属北京天坛医院。患者为慢性进展性病程，临床主要表现为肌阵挛、认知障碍、小脑性共济失调。脑电图示背景节律轻度减慢、双侧后头部为主的低-中波幅2.5~3.5 Hz尖慢波。头颅磁共振成像（MRI）可见双侧大脑皮质、海马及小脑萎缩，正电子发射体层摄影-MRI示双侧后头部为主的低代谢，临床表现符合PME诊断，基因检测结果示 NUS1基因存在新生突变［c.15del，p.（Tyr5 *）］。文献复习共检索到7篇英文文献报道的9例由 NUS1基因突变导致的PME病例，加上本例患者共10例。患者的首次发病年龄为0.5~26.0岁，男女比率为4∶6。临床表现包括肌阵挛（10/10）、智力障碍（9/10）、共济失调（8/10）、全面强直-阵挛发作（4/10）、精神异常（2/10）、构音障碍（2/10）等。所有患者早期均伴有肌阵挛，首次出现在0.5~40.0岁，均不合并帕金森病。患者的影像学异常表现包括双侧大脑皮质、海马、小脑萎缩及胼胝体增厚，但多数患者影像学检查结果无异常。4例患者脑电图背景活动减慢。在10例PME患者中，4例携带移码变异，3例携带经典剪接位点变异，2例携带错义变异，1例携带大片段缺失，其中7例患者的变异主要位于跨膜结构域1和顺式-异戊烯基转移酶关键结构域。可选择的抗发作药物包括丙戊酸钠、左乙拉西坦、氯硝西泮等，4例患者经丙戊酸钠治疗后发作控制良好。 结论:肌阵挛是 NUS1基因突变所致PME患者早期、突出的临床特征。 NUS1基因变异是PME的罕见病因， NUS1基因应该被纳入PME基因检测组套中。

abstractsObjective:To explore the clinical characteristics of progressive myoclonic epilepsy (PME) caused by NUS1 gene mutations and to enhance clinicians′ understanding of this disease. Methods:The clinical features of a patient with PME due to an NUS1 gene mutation admitted to Beijing Tiantan Hospital, Capital Medical University in May 2024 were analyzed. A retrospective analysis was conducted combining relevant literature review to summarize the clinical characteristics, genetic test results, and diagnosis and treatment experience of this disease. Results:The patient was a 28-year-old male who presented to Beijing Tiantan Hospital, Capital Medical University on May 14, 2024, with the chief complaint of "involuntary shaking of the head and both upper limbs for 2 years". The patient had a chronic progressive course, with clinical manifestations mainly including myoclonus, cognitive impairment, and cerebellar ataxia. Electroencephalography (EEG) showed a mildly slowed background rhythm and low-to-medium amplitude 2.5-3.5 Hz sharp and slow waves predominantly over the bilateral posterior head regions. Brain magnetic resonance imaging (MRI) revealed bilateral cerebral cortical, hippocampal, and cerebellar atrophy. Positron emission tomography-MRI showed hypometabolism predominantly in the bilateral posterior head regions. The clinical presentation was consistent with a diagnosis of PME. Genetic testing revealed a de novo mutation in the NUS1 gene [c.15del, p.(Tyr5 *)]. A literature review identified 9 PME cases due to NUS1 gene mutations reported in 7 English publications. A total of 10 cases were summarized including the current case. The age at first onset of the patients ranged from 0.5 to 26.0 years, with a male-to-female ratio of 4∶6. Clinical manifestations included myoclonus (10/10), intellectual disability (9/10), ataxia (8/10), generalized tonic-clonic seizures (4/10), insanity (2/10), dysarthria (2/10) and other symptoms. All patients had myoclonus in the early stage, with the age at first appearance of myoclonus ranging from 0.5 to 40.0 years. None of the patients had comorbid Parkinson′s disease. Imaging abnormalities included bilateral cerebral cortical, hippocampal, and cerebellar atrophy, as well as corpus callosum thickening, although most patients had normal imaging findings. Four patients showed slowed background activity on EEG. Among the 10 PME patients, 4 had frameshift variants, 3 had canonical splice-site variants, 2 had missense variants, and 1 had a large fragment deletion. Variants in 7 patients were primarily located in the transmembrane domain 1 and cis-isopentenyltransferase key domains. Available antiseizure medications included sodium valproate, levetiracetam, clonazepam, etc. Four patients achieved good seizure control after treatment with sodium valproate. Conclusions:Myoclonus is an early and prominent clinical feature in PME patients caused by NUS1 gene mutations. NUS1 gene mutations represent a rare etiology of PME. The NUS1 gene should be included in genetic testing panels for PME.