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Article

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

Neurology - 1 Dec 2009

Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P

Abstract excerpt

BACKGROUND: COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic stroke. We recently described hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome in 3 families with closely localized COL4A1 muta...

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Identifiers

PMID: 19949034
DOI: 10.1212/WNL.0b013e3181c3fd12
PMCID: PMC2881859

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19949034-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.PMID 19949034Read ↗

[Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene].Semantic proximity Read ↗

Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.Semantic proximity Read ↗

Main features of COL4A1-COL4A2 related cerebral microangiopathiesSemantic proximity Read ↗

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.Semantic proximity Read ↗

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.Semantic proximity Read ↗

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.Semantic proximity Read ↗

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.Semantic proximity Read ↗

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Role of COL4A1 in Basement-Membrane Integrity and Cerebral Small-Vessel Disease. The COL4A1 Stroke SyndromeSemantic proximity Read ↗

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.Semantic proximity Read ↗

Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.Semantic proximity Read ↗

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Semantic proximity Read ↗

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