神经元核内包涵体病的再认识  

Neuronal intranuclear inclusion disease revisiting

作　　者：洪道俊[1] 王朝霞[2] Hong Daojun;Wang Zhaoxia(Department of Neurology,the First Affiliated Hospital of Nanchang University,Nanchang 330006,China;Department of Neurology,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]南昌大学第一附属医院神经内科,330006 [2]北京大学第一医院神经内科,100034

出　　处：《中华神经科杂志》2020年第10期741-745,共5页Chinese Journal of Neurology

摘　　要：神经元核内包涵体病(neuronal intranuclear inclusion disease,NIID)是一种主要累及神经系统的罕见病,皮肤活组织检查作为筛查手段极大地提高了该病的诊断效能。最近国内外学者确定了NIID的致病突变为NOTCH2NLC基因的GGC重复扩展,同时发现该基因变异除了导致以发作性/进展性脑病、周围神经病和自主神经病等为主要表现的经典型NIID外,在少数阿尔茨海默病、帕金森综合征、多系统萎缩、特发性震颤等神经系统变性病患者中也检测到此基因变异。因此NIID疾病名称变更为NOTCH2NLC-相关重复扩展性疾病更为合适。我们对NIID的研究历程、病理改变特点、临床表型和辅助检查以及诊断和治疗新进展进行述评。Neuronal intranuclear inclusion disease(NIID)is a rare neurodegenerative disease.Skin biopsy,as a screening method,has greatly improved the diagnostic efficiency of the disease.Recently,researchers have successfully identified that the GGC repeat expansion in the 5'region of the NOTCH2NLC gene is the causative mutation of NIID.In addition to the typical NIID phenotype presenting with episodic/progressive encephalopathy,peripheral neuropathy,and autonomic disturbance,the gene mutation had also been reported to be associated with a small portion of Alzheimer's disease,Parkinsonism,multiple system atrophy and essential tremor patients.So,the name of NOTCH2NLC-related repeat expansion disorder was proposed to include these variable phenotypes.We revisited the discovery milestones,clinical phenotype,laboratory examinations,as well as new insight into diagnosis and treatment of NIID.

关 键 词：神经元 核内包涵体 三核苷酸重复扩增 突变 NOTCH2NLC基因 

分 类 号：R741[医药卫生—神经病学与精神病学]