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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Auteurs principaux:	Linsen Ye, Yue Xu, Shuqing Meng, Genshan Gao, Yao Liu, Boyuan Ding, Nannuan Liu
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2026-03-01
Collection:	BMC Neurology
Sujets:	Neuronal Intranuclear Inclusion Disease (NIID) NOTCH2NLC GGC Repeat Expansion Diffusion-Weighted Imaging (DWI) Ribbon Sign Case Report
Accès en ligne:	https://doi.org/10.1186/s12883-026-04833-5
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