Reports Summarize Vascular Dementia Study Results from Peking Union Medical College Hospital (Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review).

A systematic review conducted by researchers at Peking Union Medical College Hospital in Beijing, China, aimed to characterize NOTCH3 cysteine-sparing mutations in patients with clinical suspicion of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The study screened 298 individuals with NOTCH3 cysteine-sparing mutations and found that gait impairment, cognitive impairment, and stroke were the most common clinical phenotypes, while lacunes and cerebral microbleeds were the most frequent radiological cerebral phenotypes. Compared to CADASIL patients, patients with NOTCH3 cysteine-sparing mutations had higher frequencies of cognitive impairment and cerebral microbleeds, but lower frequencies of white matter hyperintensities in certain brain regions. The researchers concluded that further studies are needed to understand atypical NOTCH3 variants and their underlying mechanisms. [Extracted from the article]