Title : Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population.

Pub. Date : 2020 Dec

PMID : 33161844






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1 Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population. Cysteine notch receptor 3 Homo sapiens
2 BACKGROUND AND PURPOSE: Cysteine altering NOTCH3 variants, which have previously been exclusively associated with the rare hereditary small vessel disease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, have a population frequency of 1:300 worldwide. Cysteine notch receptor 3 Homo sapiens
3 Using a large population database, and taking genotype as a starting point, we aimed to determine whether individuals harboring a NOTCH3 cysteine altering variant have a higher load of small vessel disease markers on brain magnetic resonance imaging than controls, as well as a higher risk of stroke and cognitive impairment. Cysteine notch receptor 3 Homo sapiens
4 The case group consisted of individuals harboring a NOTCH3 cysteine altering variant (n=118). Cysteine notch receptor 3 Homo sapiens
5 CONCLUSIONS: Cysteine altering NOTCH3 variants are an important contributor to the risk of stroke, lacunes, and white matter hyperintensities in the elderly population. Cysteine notch receptor 3 Homo sapiens