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Neuronal intranuclear inclusion disease caused by NOTCH2NLC gene expansion: a case report and literature review

Abstract Background Neuronal intranuclear inclusion disease (NIID) is an extremely rare, slowly progressive neurodegenerative disorder characterized by episodic neurological and psychiatric symptoms. Diagnosis is challenging due to non-specific presentations, often leading to misdiagnosis. Key diagn...

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Principais autores: Linsen Ye, Yue Xu, Shuqing Meng, Genshan Gao, Yao Liu, Boyuan Ding, Nannuan Liu
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2026-03-01
סדרה:BMC Neurology
נושאים:
Neuronal Intranuclear Inclusion Disease (NIID)
NOTCH2NLC
GGC Repeat Expansion
Diffusion-Weighted Imaging (DWI)
Ribbon Sign
Case Report
גישה מקוונת:https://doi.org/10.1186/s12883-026-04833-5
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