Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
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- Hongfei Tai
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- An Wang
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Yumei Zhang
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Shaocheng Liu
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Yunzhu Pan
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Kai Li
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Guixian Zhao
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Mengwen Wang
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Guode Wu
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Songtao Niu
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Hua Pan
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Bin Chen
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Wei Li
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Xingao Wang
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Gehong Dong
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Ying Zhang
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Sheng Guo
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Xiaoyun Liu
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Mingxia Li
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Hui Liang
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Ming Huang
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Wei'an Chen
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
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- Zaiqiang Zhang
- From the Department of Neurology (H.T., A.W., S.L., Y.P., S.N., H.P., B.C., X.W., Z.Z.), Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases (H.T., A.W., Yumei Zhang, S.L., Y.P., S.N., H.P., B.C., X.W., G.D., Z.Z.), Beijing; Monogenic Disease Research Center for Neurological Disorders (Yumei Zhang), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (K.L.), Beijing Hospital, National Center of Gerontology,...
説明
Neuronal intranuclear inclusion body disease (NIID) is a neurodegenerative disease with highly heterogeneous clinical manifestations. The present study aimed to characterize clinical features and propose a classification system based on a large cohort of NIID in China.The Chinese NIID registry was launched from 2017, and participants' demographics and clinical features were recorded. Brain MRI, skin pathologies, and the number of GGC repeat expansions in the 5' untranslated region of theIn total, 223 patients (64.6% female) were recruited; the mean (SD) onset age was 56.7 (10.3) years. The most common manifestations were cognitive impairment (78.5%) and autonomic dysfunction (70.9%), followed by episodic symptoms (51.1%), movement disorders (50.7%), and muscle weakness (25.6%). Imaging markers included hyperintensity signals along the corticomedullary junction on diffusion-weighted imaging (96.6%), white matter lesions (98.1%), paravermis (55.0%), and focal cortical lesions (10.1%). The median size of the expanded GGC repeats in these patients was 115 (range, 70-525), with 2 patients carrying300 GGC repeats. A larger number of GGC repeats was associated with younger age at onset (This observational study of NIID establishes an overall picture of the disease regarding clinical, imaging, and genetic characteristics. The proposed clinical classification of NIID based on the most prominent manifestation divides patients into 5 types.
収録刊行物
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- Neurology Genetics
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Neurology Genetics 9 (2), e200057-, 2023-04
Ovid Technologies (Wolters Kluwer Health)
