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Article

NOTCH2NLC expanded GGC repeats in patients with cerebral small vessel disease.

Stroke and vascular neurology - 1 Apr 2023

Wang Yun-Chao, Fan Yu, Yu Wen-Kai, Shen Si, Li Jia-Di, Gao Yuan, Ji Yan, Li Yu-Sheng, Yu Lu-Lu, Zhao Zi-Chen, Li Shan-Shan, Ding Yao, Shi Chang-He, Xu Yu-Ming

Abstract excerpt

OBJECTIVE: GGC repeat expansions in the human-specific NOTCH2NLC gene have been reported as the cause of neuronal intranuclear inclusion disease (NIID). Given the clinical overlap of cognitive impairment in NIID and cerebral small vessel disease (CSVD), both diseases have white matter hyperintensity on T2-fluid-attenuated inversion recovery sequences of brain MRI, and white matter hyperintensity is a primary...

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Identifiers

PMID: 36207023
DOI: 10.1136/svn-2022-001631
PMCID: PMC10176980

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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