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Article

Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis.

World neurosurgery - 1 Sept 2017

Belousova Olga B, Okishev Dmitry N, Ignatova Tatyana M, Balashova Maria S, Boulygina Eugenia S

Abstract excerpt

We report on a patient with 2 Mendelian diseases-symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson disease. Genetic analysis revealed single nucleotide polymorphisms in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in the ATP7B gene, responsible for Wilson disease. FCCMs were symptomatic in 3 generations. The patient also had multiple...

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Identifiers

PMID: 28602929
DOI: 10.1016/j.wneu.2017.06.002

Genes

CCM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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