Genomic causes of multiple cerebral cavernous malformations in a Japanese population.

doi:10.1016/j.jocn.2012.05.041

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Article

Genomic causes of multiple cerebral cavernous malformations in a Japanese population.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 May 2013

Tsutsumi Satoshi, Ogino Ikuko, Miyajima Masakazu, Ikeda Tomomi, Shindo Noriko, Yasumoto Yukimasa, Ito Masanori, Arai Hajime

Abstract excerpt

Cerebral cavernous malformation (CCM) is a hamartomatous vascular disease affecting the central nervous system. A fraction of CCM are thought to arise in association with genomic mutations in the cerebral cavernous malformation 1 (CCM1) (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) genes. In the pre...

Topics

Adolescent
Adult
Aged
Apoptosis Regulatory Proteins
Brain Neoplasms
Brain Stem Neoplasms
Carrier Proteins
Central Nervous System Neoplasms
Cerebellar Neoplasms
Child
Female
Genetic Predisposition to Disease
Genome
Hemangioma, Cavernous, Central Nervous System
Humans
Japan
KRIT1 Protein
Male

Source

Open in PubMed

Identifiers

PMID: 23485406
DOI: 10.1016/j.jocn.2012.05.041

Genes

CCM2
PDCD10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-23485406-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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