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Article

Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

Journal of the American Heart Association - 6 Aug 2024

Cho Bernard P H, Auckland Kate, Gräf Stefan, Markus Hugh S

Abstract excerpt

BACKGROUND: Cerebral small-vessel disease (cSVD) is the leading monogenic cause of stroke. Despite genetic screening in routine diagnosis, many cases remain without a known causative variant. Using a cohort with suspected familial cSVD and whole-genome sequencing, we screened for variants in genes associated with monogenic cSVD and searched for novel variants associated with the disease. METHODS AND RESULTS: Rare...

Topics

Humans
Cerebral Small Vessel Diseases
Male
Female
Middle Aged
Genetic Predisposition to Disease
Whole Genome Sequencing
Aged
Adult
Genetic Variation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Case-Control Studies

Phenotype

Mutation

Risk Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 39082428
DOI: 10.1161/JAHA.123.035771
PMCID: PMC11964016

Genes

FAM20C
INHA
LAMC1
VWA5B2

Provenance

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

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