Department of Neurology, Affiliated Hospital of Xuzhou Medical University, 221002, Xuzhou, P.R. China.
School of International Education, Xuzhou Medical University, 221002, Xuzhou, P.R. China.
Neurol Sci. 2020 May;41(5):1019-1025. doi: 10.1007/s10072-019-04195-6. Epub 2020 Jan 2.
To summarize the current understanding of neuronal intranuclear inclusion disease (NIID) and improve the understanding of the physician about this condition.
We searched PubMed with keywords related to NIID and selected publications which seemed appropriate. We analyzed its clinical features, pathogenesis, evaluation methods, treatment options, and research prospectives.
NIID is a degenerative condition which can affect multiple organ systems especially central nervous system. Its clinical features greatly vary, and making the exact diagnosis is often difficult. There are several genes which have been associated with this disorder. Some specific signs on diffusion-weighted-imaging (DWI) sequence of magnetic resonance (MR) imaging are characteristics to NIID.
Intranuclear inclusions have been found in various nonneural cells of the body; therefore, the term systemic intranuclear inclusion disease is, perhaps, better suited to explain this disorder. There are several disorders which need to be ruled out before making the diagnosis, and neuroimaging and biopsy analysis should be combined to support the diagnosis.
总结神经元核内包涵体病（NIID）的现有认识，提高临床医生对此病的认识。
检索 PubMed 数据库，以 NIID 相关的关键词搜索，选择合适的文献进行分析。对其临床特征、发病机制、评估方法、治疗选择及研究展望进行分析。
NIID 是一种退行性疾病，可影响多个器官系统，尤其是中枢神经系统。其临床表现差异很大，明确诊断往往较为困难。有几个基因与该病相关。磁共振成像（MR）弥散加权成像（DWI）序列上的一些特定征象是 NIID 的特征。
已在体内各种非神经细胞中发现核内包涵体，因此，用“全身核内包涵体病”这一术语可能更适合解释这种疾病。在做出诊断之前，需要排除几种需要鉴别的疾病，神经影像学和活检分析应结合起来支持诊断。
