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以精神和行为障碍为表现的成人起病型神经元核内包涵体病：1例报告及文献复习

Adult-onset neuronal nuclear inclusion disease presenting with mental and behavioral disorders: A case report and literature review.

作者信息

Lou Yue, Yu Jing-Ying, Shuai Zhi-Feng, Zhao Ting, Wang Yan-Wen, Liu Xiao-Li

机构信息

Department of Neurology Zhejiang Hospital Hangzhou China.

Department of Pathology Zhejiang Hospital Hangzhou China.

出版信息

Aging Med (Milton). 2022 Dec 20;5(4):297-302. doi: 10.1002/agm2.12237. eCollection 2022 Dec.

DOI:10.1002/agm2.12237
PMID:36606264
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9805289/
Abstract

Neuronal nuclear inclusion disease (NIID) is a rare and chronic progressive neurological degenerative disease. We presented a 68-year-old man with paroxysmal orientation disorder 1 year prior, mental and behavioral disorders for 2 days, and confirmed the diagnosis of NIID with skin biopsy. We suggest that patients with atypical clinical symptoms showed characteristic high signal in the dermatomedullary junction on DWI; NIID should be considered.

摘要

神经元核内包涵体病（NIID）是一种罕见的慢性进行性神经退行性疾病。我们报告了一名68岁男性，1年前出现发作性定向障碍，2天前出现精神和行为障碍，经皮肤活检确诊为NIID。我们建议，具有非典型临床症状的患者在DWI上的皮髓质交界区显示特征性高信号时，应考虑NIID。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a177/9805289/20df0a1ec91f/AGM2-5-297-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a177/9805289/662492871d21/AGM2-5-297-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a177/9805289/18301419f24f/AGM2-5-297-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a177/9805289/20df0a1ec91f/AGM2-5-297-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a177/9805289/662492871d21/AGM2-5-297-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a177/9805289/18301419f24f/AGM2-5-297-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a177/9805289/20df0a1ec91f/AGM2-5-297-g001.jpg

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本文引用的文献

1
Adult-Onset Neuronal Intranuclear Inclusion Disease: First Korean Case Confirmed by Skin Biopsy.成人起病的神经元核内包涵体病：首例经皮肤活检确诊的韩国病例
J Clin Neurol. 2020 Oct;16(4):720-722. doi: 10.3988/jcn.2020.16.4.720.
2
Clinical and pathological features in adult-onset NIID patients with cortical enhancement.成人起病的伴有皮质增强的新型隐球菌性脑炎患者的临床和病理特征。
J Neurol. 2020 Nov;267(11):3187-3198. doi: 10.1007/s00415-020-09945-7. Epub 2020 Jun 13.
3
Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy.
对多名多系统萎缩症患者的 NOTCH2NLC 基因进行重复扩展扫描。
Ann Clin Transl Neurol. 2020 Apr;7(4):517-526. doi: 10.1002/acn3.51021. Epub 2020 Apr 6.
4
Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias.鉴定神经退行性痴呆症中 NOTCH2NLC 的扩展重复。
Neurobiol Aging. 2020 May;89:142.e1-142.e7. doi: 10.1016/j.neurobiolaging.2020.01.010. Epub 2020 Jan 24.
5
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.GGC 重复扩展与人特异性 NOTCH2NLC 基因有关，与原发性震颤有关。
Brain. 2020 Jan 1;143(1):222-233. doi: 10.1093/brain/awz372.
6
Diagnostic indicators for adult-onset neuronal intranuclear inclusion disease.成人起病的神经元核内包涵体病的诊断指标。
Clin Neuropathol. 2020 Jan/Feb;39(1):7-18. doi: 10.5414/NP301203.
7
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.NOTCH2NLC 基因 GGC 重复扩展与成人脑白质病。
Ann Neurol. 2019 Dec;86(6):962-968. doi: 10.1002/ana.25586. Epub 2019 Oct 22.
8
Long-read sequencing identified repeat expansions in the 5'UTR of the gene from Chinese patients with neuronal intranuclear inclusion disease.长读测序鉴定了中国神经元核内包涵体病患者基因 5'UTR 中的重复扩展。
J Med Genet. 2019 Nov;56(11):758-764. doi: 10.1136/jmedgenet-2019-106268. Epub 2019 Aug 14.
9
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.长读测序鉴定出 NOTCH2NLC 中的 GGC 重复扩展与神经元核内包涵体病有关。
Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22.
10
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.神经元核内包涵体病、眼咽远端肌病和重叠疾病中的非编码 CGG 重复扩展。
Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22.