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Papers of the Week


2020


Folia Neuropathol


58


1

Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL.

Authors

Dorszewska J, Kowalska M, Grzegorski T, Dziewulska D, Karmelita-Katulska K, Barciszewska A-M, Prendecki M, Gorczyński W, Kozubski W
Folia Neuropathol. 2020; 58(1):83-92.
PMID: 32337960.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary, progressive ischemic disease of small vessels of the brain characterized by migraine with aura (MA), recurrent subcortical ischemic episodes, cognitive decline and psychiatric disorders. CADASIL is caused by mutations in the NOTCH3 gene. We identified the NOTCH3 Y189C mutation as a genetic cause of CADASIL in a Polish family and provided its first clinical manifestation.