ArticleNeurology. Genetics2023
Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease.
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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52citing papers in PubMed, 2 pooled it
10.1field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Neuronal intranuclear inclusion disease with stroke-mimicking onset: a case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- The evolving etiologies of rapidly progressive dementia: a systematic review.Translational psychiatry · 2025Pooled it
- Neuronal Intranuclear Inclusion Disease Mimicking Familial ALS: A Multigenerational Case Series With Diagnostic Pitfalls.Muscle & nerve · 2026Article
- Neural substrates of cognitive decline and tremor in neuronal intranuclear inclusion disease: a morphometric MRI study.Brain structure & function · 2026Article
- Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease.Annals of clinical and translational neurology · 2026Article
- Distinctive hydrocephalus-like phenotype in NOTCH2NLC-related neuronal intranuclear inclusion disease: clinicopathological features and therapeutic implications.Acta neuropathologica communications · 2026Article
- Overflow urinary incontinence as an early manifestation of neuronal intranuclear inclusion disease (NIID): a case report.Journal of medical case reports · 2026Article
- Subclinical peripheral nerve demyelination without overt symptoms in a family with neuronal intranuclear inclusion disease harboring biallelic repeat expansions.BMC neurology · 2026Article
- Expanding mutational and phenotypic spectrum of CST3-related leukoencephalopathy: a novel family and literature review.Neurogenetics · 2026Review
- Neuronal intranuclear inclusion disease caused by NOTCH2NLC gene expansion: a case report and literature review.BMC neurology · 2026Review
- Adult-onset neuronal intranuclear inclusion disease initially presenting with prominent gastrointestinal symptoms: a case report.BMC neurology · 2026Article
- NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.Cell & bioscience · 2026Article
- Neuronal intranuclear inclusion disease: a diagnostic pitfall for MELAS.BMC neurology · 2026Article
- Precise excision of expanded GGC repeats in NOTCH2NLC via CRISPR/Cas9 for treating neuronal intranuclear inclusion disease.Nature communications · 2026Article
- Evolutionary implications ofBrain communications · 2026Article
- Structural and molecular substrates underlying functional dysconnectivity and cognitive impairment in neuronal intranuclear inclusion disease.Frontiers in behavioral neuroscience · 2026Article
- Neuronal intranuclear inclusion disease with initial manifestation of intractable nausea and vomiting responsive to corticosteroids: a case report.Frontiers in immunology · 2026Article
- High burden of kidney involvement in neuronal intranuclear inclusion disease.Frontiers in neurology · 2026Article
- Novel proteomics and neuropathology ofFrontiers in aging neuroscience · 2026Article
- Neuronal Intranuclear Inclusion Disease: A Case Report With Insights Into Clinical Features and Potential Therapeutic Implications.Case reports in neurological medicine · 2026Article
Corrections and comments
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Authors and funding
25 authors at 1 institution in 1 country.
Hongfei TaiDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.ORCID https://orcid.org/0000-0002-4335-9270
An WangDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Yumei ZhangDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Shaocheng LiuDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Yunzhu PanDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Kai LiDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Guixian ZhaoDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Mengwen WangDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Guode WuDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Songtao NiuDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Hua PanDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Bin ChenDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.ORCID https://orcid.org/0000-0001-8370-9346
Wei LiDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Xingao WangDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Gehong DongDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Wei LiDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.ORCID https://orcid.org/0000-0003-4168-566X
Ying ZhangDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Sheng GuoDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Xiaoyun LiuDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Mingxia LiDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Hui LiangDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Ming HuangDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.ORCID https://orcid.org/0000-0001-9436-1736
Wei'an ChenDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
Zaiqiang ZhangDepartment 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, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences; Department of Neurology (G.Z.), Huashan Hospital, Shanghai Medical College, Fudan University; Department of Neurology (M.W.), The First Affiliated Hospital of Fujian Medical University, Fujian Medical University, Fuzhou; Department of Neurology (G.W.), Lanzhou University Second Hospital; Department of Pathology (G.D.), Beijing Tiantan Hospital, Capital Medical University; Department of Neurology (W.L.), Army Medical Center of People's Liberation Army, Chongqing; Department of Neurology (Ying Zhang), The First People's Hospital of Shangqiu; Department of Neurology (S.G.), The First Affiliated Hospital of Xinxiang Medical University; Department of Neurology (X.L.), Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan; Department of Neurology (M.L.), The First People's Hospital of Huaihua City; Department of Neurology (H.L.), The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou; Department of Neurology (M.H.), Hubei Provincial Hospital of Integrated Chinese & Western Medicine, Wuhan; and Department of Neurology (W.C.), First Affiliated Hospital of Wenzhou Medical University, China.
China NIID Collaboration Alliance
Fujian Medical University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: 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. Methods: 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 the Results: In 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 carrying >300 GGC repeats. A larger number of GGC repeats was associated with younger age at onset ( Discussion: 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.
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