Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

Neurology

From CHU Nîmes (D.R., P.L.), Hôpital Caremeau; AP-HP, Service de Génétique Neuro-vasculaire (M.M., E.T.-L.), Hôpital Lariboisière, Paris; UMR-S 1161 Université Paris Diderot (M.M., E.T.-L.), Sorbonne Paris Cité, Génétique des Maladies Vasculaires, Paris; and AP-HP, Hôpital Jean Verdier (E.P., A.D., B.B.), Cytogénétique, Bondy, INSERM, Paris, Université Paris Nord, Sorbonne Paris Cité, Bobigny, France.

Published: September 2014

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000769DOI Listing

Publication Analysis

Top Keywords

cerebral small-vessel
4
small-vessel disease
4
disease associated
4
associated col4a1
4
col4a1 col4a2
4
col4a2 gene
4
gene duplications
4
cerebral
1
disease
1
associated
1

Similar Publications

Objective: The prevalence of ischemic stroke in young adults has increased dramatically. However, factors associated with prognosis in this cohort have not been well studied. This study primary aimed to construct and validate a nomogram for predicting stroke recurrence and to achieve risk stratification of young adults after acute ischemic stroke (AIS).

View Article and Find Full Text PDF

Objective: Recent studies have indicated a close relationship between intracranial arterial stenosis and white matter hyperintensities (WMHs), but few have reported on the correlation between the characteristics of intracranial arterial wall plaques and WMHs. The aim of this study was to comprehensively assess the correlation between intracranial atherosclerosis plaques and WMHs using 3.0T high-resolution magnetic resonance imaging (HR-MRI).

View Article and Find Full Text PDF

Aim: Branch atheromatous disease (BAD), characterized by the occlusion of perforating branches near the orifice of a parent artery, often develops early neurological deterioration because the mechanisms underlying BAD remain unclear. Abnormal wall shear stress (WSS) is strongly associated with endothelial dysfunction and plaque growth or rupture. Therefore, we hypothesized that computational fluid dynamics (CFD) modeling could detect differences in WSS between BAD and small-vessel occlusion (SVO), both of which result from perforating artery occlusion/stenosis.

View Article and Find Full Text PDF

Light chain Split Luciferase assay implicates pathological NOTCH3 thiol reactivity in inherited cerebral small vessel disease.

J Biol Chem

January 2025

Departments of Neurology, University of Michigan, Ann Arbor, MI 48109; Departments of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109; Neurology Service, VA Ann Arbor Healthcare System, Department of Veterans Affairs, Ann Arbor, MI 48105. Electronic address:

Stereotyped mutations in NOTCH3 drive CADASIL, the leading inherited cause of stroke and vascular dementia. The vast majority of these mutations result in alterations in the number of cysteines in the gene product. However, non-cysteine altering pathogenic mutations have also been identified, making it challenging to discriminate pathogenic from benign NOTCH3 sequence variants.

View Article and Find Full Text PDF

Background: Cardiovascular risk factors (CRFs) like hypertension, high cholesterol, and diabetes mellitus are increasingly linked to cognitive decline and dementia, especially in cerebral small vessel disease (cSVD). White matter hyperintensities (WMH) are closely associated with cognitive impairment, but the mechanisms behind their development remain unclear. Blood-brain barrier (BBB) dysfunction may be a key factor, particularly in cSVD.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!