Sneddon syndrome is a rare disorder affecting small and medium-sized blood vessels that is
characterized by the association of livedo reticularis and stroke. We performed whole-exome …

Objective Heterozygous NOTCH3 variants are known to cause cerebral autosomal dominant
arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with patients …

Sneddon's syndrome is a rare vascular disease affecting mainly skin and brain arterioles
leading to their occlusion due to excessive endothelial proliferation. The two main features …

Background: To determine whether extremely mild small vessel disease (SVD) phenotypes
can occur in NOTCH3 variant carriers from Cerebral Autosomal Dominant Arteriopathy with …

A47-YEAR-OLD WOMAN with hypertension presentedwithataxia and nystagmus. She had
been having recurrentischemicstrokessince25years of age. Cranial magnetic resonance …

Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is an inherited vascular dementia characterized by the …

Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in
NOTCH 3, one of the four human NOTCH receptors, cause cerebral autosomal dominant …

NOTCH3 gene mutations are diagnostic for the most common hereditary cerebral small
vessel disease (SVD), cerebral autosomal dominant arteriopathy with subcortical infarcts …

Background The presence of livedo reticularis in patients with ischaemic stroke is
associated with Sneddon syndrome (SS). Our objective was to present the clinical features …

Abstract Background Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts
and Leukoencephalopathy, with an autosomal dominant mode of transmission, is an …