Background Cerebral small‐vessel disease (cSVD) is an important cause of stroke and
vascular dementia. Most cases are multifactorial, but an emerging minority have a …

Objectives: The objective of this study was to clarify the characteristic brain MRI findings for
genetically diagnosed CARASIL (cerebral autosomal recessive arteriopathy with subcortical …

High temperature requirement protein A1 (HtrA1) was identified as the causative gene of
autosomal recessive arteriopathy and associated with lacunar ischemic stroke (IS) in …

Background This study aimed to clarify the frequency and clinical features of monogenic
cerebral small vessel disease (mgCSVD) among patients with adult-onset severe CSVD in …

Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) and retinal vasculopathy with cerebral leukodystrophy and …

BACKGROUND: Mutations in the TREX1 and NOTCH3 genes cause retinal vasculopathy
with cerebral leukodystrophy (RVCL) and cerebral autosomal dominant arteriopathy with …

We report a composite extreme phenotype design using distribution of white matter
hyperintensities and brain infarcts in a population-based cohort of older persons for gene …

Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and
cardiovascular diseases are among its main risk factors. Strokes caused by small vessel …

3448 Stroke November 2014 examination, suggesting CARASIL. The patients do not have
hypertension or diabetes mellitus, which are the major risk factors for sporadic CSVD …

Background and Purpose: An important minority of cerebral small vessel disease (cSVD) is
monogenic. Many monogenic cSVD genes are recognized to be associated with …