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Article

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.

BMC neurology - 3 Aug 2014

Lanfranconi Silvia, Ronchi Dario, Ahmed Naghia, Civelli Vittorio, Basilico Paola, Bresolin Nereo, Comi Giacomo Pietro, Corti Stefania

Abstract excerpt

BACKGROUND: Cerebral cavernous malformations are relatively rare vascular disorders that may affect any part of the central nervous system. This presentation has been associated with heterozygous mutations in CCM1/KRIT1, CCM2/malcavernin and CCM3/PDCD10. We aimed to investigate the genetic defect underlying multiple cerebral and vertebral cavernous malformations in a multigenerational Italian family. CASE...

Topics

Adult
Aged
Female
Hemangioma, Cavernous, Central Nervous System
Humans
KRIT1 Protein
Male
Microtubule-Associated Proteins
Middle Aged
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Proto-Oncogene Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 25086949
DOI: 10.1186/s12883-014-0158-3
PMCID: PMC4236643

Genes

CCM2
PDCD10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-25086949-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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