Publikace na 3. lékařská fakulta, Ústřední knihovna, 1. lékařská fakulta |
2022
Abstrakt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by recurrent strokes and progressive vascular dementia caused by a pathogenic mutation in the NOTCH3 geneon chromosome 19. This gene codes for a transmembrane receptor expressed predominantly in the smooth muscle of vessels.
About 300 missense mutations have been reported in this gene. Besides mutations clearly linked to CADASIL, other variants are of uncertain clinical significance.
We report a case with the c.1490C> T (p.S497L) variant, which in the literature is considered benign; nonetheless, based on biopsy and autopsy data, a possible association with CADASIL may exist.