Re-defining the clinicopathological spectrum of neuronal intranuclear inclusion disease.
Re-defining the clinicopathological spectrum of neuronal intranuclear inclusion disease.
复制标题
重新定义神经元核内包涵体病的临床病理学谱。
DOI：
10.1002/acn3.51189
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发表时间：
2020-10
影响因子：
5.3
通讯作者：
Xu X
中科院分区：
文献类型：
--
作者：
Chen H;Lu L;Wang B;Cui G;Wang X;Wang Y;Raza HK;Min Y;Li K;Cui Y;Miao Z;Wan B;Sun M;Xu X
近年来，神经元核内包涵体病（NIID）的病例报道迅速增加，除神经系统症状外，还伴有其他系统症状。本研究对NIID患者的症状、体征、辅助检查及不同系统的病理改变进行了系统评价。NIID患者通过检查NOTCH 2NLC基因中的GGC重复来确认。收集NIID患者的症状、体征、辅助检查等临床资料进行分析。在来自先前手术样本的不同组织中检测到泛素和p62。本研究纳入了来自17个家庭的51名NIID患者。除神经系统症状外，其他系统的临床表现非常显著和多样。各系统症状所占比例依次为神经系统88.2%，呼吸系统78.4%，循环系统72.5%，运动系统72.5%，泌尿系统66.7%，消化系统64.7%，生殖系统61.5%，内分泌系统50.0%。此外，其他常见症状包括性功能障碍（43.1%）、瞳孔收缩（56.9%）、视力模糊（51.0%）和听力下降（23.5%）。在24例既往手术的NIID患者的不同组织和系统中发现了泛素和p62阳性细胞。NIID的首发症状和不同系统的中位发病年龄也显示了NIID的系统异质性。本研究首次通过临床和病理证据系统地证明了NIID是一种异质性、系统性的神经退行性疾病。除了神经系统，NIID的临床症状和病理谱已扩展到几乎所有系统。
The rapidly increasing case reports revealed that neuronal intranuclear inclusion disease (NIID) had concomitant other system symptoms besides nervous system symptoms. In this study, we systematically evaluated the symptoms, signs, auxiliary examination, and pathological changes in different systems in NIID patients. NIID patients were confirmed by examining GGC repeats in the NOTCH2NLC gene. Clinical data of NIID patients including symptoms, signs, and auxiliary examinations were collected for analysis. Ubiquitin and p62 were detected in different tissues from previous surgical samples. Fifty‐one NIID patients from 17 families were included in this study. Except neurological symptoms, clinical manifestations from other systems were very notable and diverse. The proportions of different system symptoms were 88.2% in nervous system, 78.4% in respiratory system, 72.5% in circulatory system, 72.5% in locomotor system, 66.7% in urinary system, 64.7% in digestive system, 61.5% in reproductive system, and 50.0% in endocrine system. In addition, other common symptoms included sexual dysfunction (43.1%), pupil constriction (56.9%), blurred vision (51.0%), and hearing loss (23.5%). Ubiquitin and p62‐positive cells were found in different tissues and systems in 24 NIID patients with previous surgery. Initial symptoms of NIID and median onset age in different systems also revealed system heterogeneity of NIID. For the first time, we systematically demonstrated that NIID is a heterogeneous and systemic neurodegenerative disease by providing clinical and pathological evidence. In addition to the nervous system, the clinical symptomatic and pathological spectrum of NIID has been extended to almost all systems.
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影响因子：
9.9
作者：
Sone, J.;Tanaka, F.;Sobue, G.
通讯作者：
Sobue, G.
人类特异性 NOTCH2NLC 基因中 GGC 重复序列的扩展与特发性震颤相关。
影响因子：
14.5
作者：
Sun, Qi-Ying;Xu, Qian;Tang, Bei-Sha
通讯作者：
Tang, Bei-Sha
影响因子：
1.9
作者：
Pilson, Keith;Farrell, Michael;Devaney, Deirdre
通讯作者：
Devaney, Deirdre
DOI：
10.1093/brain/aww249
发表时间：
2016-12
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Sone J;Mori K;Inagaki T;Katsumata R;Takagi S;Yokoi S;Araki K;Kato T;Nakamura T;Koike H;Takashima H;Hashiguchi A;Kohno Y;Kurashige T;Kuriyama M;Takiyama Y;Tsuchiya M;Kitagawa N;Kawamoto M;Yoshimura H;Suto Y;Nakayasu H;Uehara N;Sugiyama H;Takahashi M;Kokubun N;Konno T;Katsuno M;Tanaka F;Iwasaki Y;Yoshida M;Sobue G
通讯作者：
Sobue G
影响因子：
12.7
作者：
LINDENBERG, R;RUBINSTEIN, LJ;HAYDON, GB
通讯作者：
HAYDON, GB