神经元核内包涵体病研究进展  

Research progress in neuronal intranuclear inclusion disease

作　　者：李洁[1] 毛晨晖[1] 高晶[1] Li Jie;Mao Chenhui;Gao Jing(Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院神经科,100730

出　　处：《中华神经科杂志》2019年第5期437-440,共4页Chinese Journal of Neurology

摘　　要：神经元核内包涵体病是一组以区域性神经元丢失、胶质细胞及神经元内有嗜酸性核内包涵体为特征性病理表现的变性疾病。皮肤、胃肠道及腓肠神经活体组织检查可见同样的包涵体。包括散发型及家族型,儿童、少年及成人均可患病。临床表现具有高度异质性,可表现为缓慢进展的痴呆、帕金森样症状、小脑性共济失调以及运动或感觉等周围神经损害、自主神经损害等;也可以表现为发作性的意识水平下降、认知功能障碍、运动障碍甚至发热。部分患者具有本病相对常见的影像学表现:核磁T2加权像及液体衰减反转恢复序列大脑侧脑室前后脚周围弥漫性对称的高信号病灶,弥散加权成像序列灰白质交界处的条状高信号。但这不是本病的唯一影像学改变,且其他疾病也可以见到类似的影像学变化。类似的神经核包涵体也可以见于脆性X染色体综合征、多聚谷氨酰胺病如亨廷顿病、脊髓小脑共济失调等疾病。基因检测对疾病鉴别有一定的帮助。本病的诊断、治疗都具有很大的挑战。Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by localized neuronal loss, and the presence of eosinophilic intranuclear inclusions in neurons and glial cells. Biopsy samples of skin, rectal and sural nerve showed hyaline intranuclear inclusions. Reported NIID cases showed familial type according to family history, and three clinical subgroups (infantile, juvenile and adult form) according to onset and disease duration. NIID has been considered as a heterogeneous disease because of the highly variable clinical manifestations including cognitive dysfunction, parkinsonism, cerebellar ataxia, peripheral neuropathy and autonomic dysfunction. Additionally, some NIID cases presented episodes of conscious disturbance, cognitive decline, movement disorder or even fever. Head magnetic resonance imaging of some patients revealed symmetrical leukoencephalopathy in T2 image and fluid attenuated inversion recovery image and high intensity signal in corticomedullary junction in diffusion weighted image. But it is not the only abnormal finding of imaging, and other diseases may also present the similar changing. Other diseases including fragile X-associated tremor-ataxia syndrome, Huntington′s disease and spinocerebellar ataxia should be considered in differential diagnosis.

关 键 词：神经元核内包涵体病 神经变性病 痴呆 周围神经病 脆性X染色体综合征 

分 类 号：R741[医药卫生—神经病学与精神病学]