Article
Distinctive hydrocephalus-like phenotype in NOTCH2NLC-related neuronal intranuclear inclusion disease: clinicopathological features and therapeutic implications.
Acta neuropathologica communications - 29 May 2026
Zhong Shaoping, Lian Yangye, Zhou Binbin, Liang Jingzhen, Li Yuzhe, Huang Luyao, Chen Xing, Yan Yi, Sun Wei, Luo Rongkui, Lu Hui, Liu Jianying, Hu Fan, Wang Xin, Ding Jing
Abstract excerpt
NOTCH2NLC-related neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder with marked clinical heterogeneity and an increasingly recognized phenotypic spectrum. Although hydrocephalus-like presentations, i.e. ventriculomegaly with concomitant with cognition, motor, and/or bladder dysfunctions, have been observed in NIID sporadically, their prevalence, clinicopathological...
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