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Article

Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease.

Journal of neurology - 21 Jul 2026

Guyler Solomon K, Alfayyadh Mohammed M, Maksemous Neven, Lea Rodney A, Smith Robert A, Sutherland Heidi G, Griffiths Lyn R

Abstract excerpt

Cerebral small vessel diseases (CSVDs) are a group of disorders affecting the small arteries, veins, and capillaries supplying the white matter and deep grey matter structures. They are the most common form of cerebrovascular disease, accounting for approximately half of vascular dementia cases and 20% of stroke incidence. Whilst genetic testing is a routine diagnostic tool for monogenic CSVDs, less than 20% of...

Topics

Humans
Cerebral Small Vessel Diseases
Exome Sequencing
Female
Male
Genetic Predisposition to Disease
Matrix Gla Protein
Genetic Association Studies
Receptor, Notch3
High-Temperature Requirement A Serine Peptidase 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Exodeoxyribonucleases

Phosphoproteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42481886
DOI: 10.1007/s00415-026-14018-2
PMCID: PMC13388773

Genes

ABCC6
COL4A1
COL4A2
COL7A1
FOXC1
GLA
HMCN1
HTRA1
LAMA1
MMP9
MYH11
NOTCH1
NOTCH3
TENM4
TNC
TREX1
TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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