Familial cerebral cavernous malformation: report of a further Italian family.

doi:10.1007/s10072-009-0020-3

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Article

Familial cerebral cavernous malformation: report of a further Italian family.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2009

Nannucci Serena, Pescini Francesca, Poggesi Anna, Ciolli Laura, Patrosso Maria Cristina, Marocchi Alessandro, Inzitari Domenico, Penco Silvana, Pantoni Leonardo

Abstract excerpt

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and may occur as a sporadic or an autosomal dominant condition. Three genes have been identified as...

Topics

Adult
Brain
Cerebellar Diseases
Chromosomes, Human, Pair 7
DNA Mutational Analysis
Epilepsy
Exons
Family Health
Female
Genetic Markers
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hemangioma, Cavernous, Central Nervous System

Humans

Intracranial Hemorrhages

Italy

KRIT1 Protein

Male

Microtubule-Associated Proteins

Source

Open in PubMed

Identifiers

PMID: 19184323
DOI: 10.1007/s10072-009-0020-3

Genes

CCM2
PDCD10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-19184323-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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