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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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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 15 Oct 2026.

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Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease.PMID 42481886Read ↗

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Frequency and phenotype associations of rare variants in five monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants with whole exome sequencing dataSemantic proximity Read ↗

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