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Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
Hongfei Tai1, An Wang1, Yumei Zhang1
1Department 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.
Neuronal intranuclear inclusion body disease (NIID) is a heterogeneous neurodegenerative disorder. This study characterizes NIID in China, proposing a 5-type clinical classification based on prominent symptoms and genetic factors.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Neuronal intranuclear inclusion body disease (NIID) presents with diverse clinical symptoms.
- Understanding NIID's heterogeneity is crucial for diagnosis and management.
Purpose of the Study:
- To characterize the clinical, imaging, and genetic features of NIID in a large Chinese cohort.
- To propose a novel clinical classification system for NIID.
Main Methods:
- A registry of 223 NIID patients in China was established.
- Clinical data, brain MRI, skin pathology, and NOTCH2NLC GGC repeat expansions were analyzed.
Main Results:
- Cognitive impairment (78.5%) and autonomic dysfunction (70.9%) were most common.
- A 5-type classification was proposed: cognitive, episodic, movement, autonomic, and neuromuscular dominant.
- GGC repeat size correlated with earlier onset (r = -0.329, p < 0.0001).
Conclusions:
- This study provides a comprehensive overview of NIID in China.
- The proposed 5-type classification aids in understanding NIID's clinical spectrum.
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