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

ABSTRACT:

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 neuroimaging marker of CSVD on MRI. Therefore, we hypothesised that the GGC repeat expansions might also contribute to CSVD. To further investigate the relationship between NOTCH2NLC GGC repeat expansions and CSVD, we performed a genetic analysis of 814 patients with the disease.

Methods

We performed a comprehensive GGC repeat expansion screening in NOTCH

SUBMITTER: Wang YC 

PROVIDER: S-EPMC10176980 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature