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Article

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

Folia neuropathologica - 1 Jan 2020

Dorszewska Jolanta, Kowalska Marta, Grzegorski Tomasz, Dziewulska Dorota, Karmelita-Katulska Katarzyna, Barciszewska Anna-Maria, Prendecki Michał, Gorczyński Wojciech, Kozubski Wojciech

Abstract excerpt

INTRODUCTION: 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...

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PMID: 32337960
DOI: 10.5114/fn.2020.94009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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