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http://dx.doi.org/10.4103/0972-2327.160072DOI Listing

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Background: The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as leading causes of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary disease that causes stroke and other neurological symptoms.

Objective: We aimed to identify the variants of NOTCH3 and thrombophilia genes, and their complex interactions with other factors.

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CT perfusion appearance of CADASIL coma.

Acta Neurol Belg

June 2024

IRCCS Istituto delle Scienze Neurologiche di Bologna, Neurologia e Rete Stroke Metropolitana, Ospedale Maggiore, Largo Nigrisoli 2, 40100, Bologna, Italy.

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Introduction: Individuals with the inherited progressive microangiopathy Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts (CADASIL) most classically develop migraine with aura and recurrent subcortical ischemic infarcts with progressive cognitive decline, gait dysfunction, psychiatric disturbances culminating in early death. However, clinically important venous pathologies may not be anticipated by treating neurologists such as branch retinal vein occlusions (BRVOs). Herein we describe a case of CADASIL with a BRVO and a brief review of venous pathology in CADASIL.

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The main clinical manifestations of Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are migraine with aura, ischemic strokes, and progressive cognitive decline. Intracerebral hemorrhage (ICH) has been described in CADASIL, but is not widely recognized. Here we report a case with CADASIL that presented with fatal ICH.

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