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Papers of the Week

2020 Nov 09


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


Hack RJ, Rutten JW, Person TN, Li J, Khan A, Griessenauer CJ, Abedi V, Lesnik Oberstein SAJ, Zand R
Stroke. 2020 Nov 09:STROKEAHA120030343.
PMID: 33161844.


Cysteine altering 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. Using a large population database, and taking genotype as a starting point, we aimed to determine whether individuals harboring a 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.