CCM1 mutation screen of sporadic cases with cerebral cavernous malformations

D J Verlaan; S B Laurent; U Sure; H Bertalanffy; E Andermann; F Andermann; G A Rouleau; A M Siegel

doi:10.1212/01.wnl.0000118299.55857.bb

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations

Neurology. 2004 Apr 13;62(7):1213-5. doi: 10.1212/01.wnl.0000118299.55857.bb.

Authors

D J Verlaan¹, S B Laurent, U Sure, H Bertalanffy, E Andermann, F Andermann, G A Rouleau, A M Siegel

Affiliation

¹ Center for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

PMID: 15079030
DOI: 10.1212/01.wnl.0000118299.55857.bb

Abstract

Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, whereas cases with only one malformation have none. Sporadic cases with multiple malformations warrant the same approach as individuals who have a familial history of CCM.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 7 / genetics
DNA Mutational Analysis
Exons / genetics
Genetic Testing*
Germany / epidemiology
Hemangioma, Cavernous, Central Nervous System / diagnosis
Hemangioma, Cavernous, Central Nervous System / epidemiology
Hemangioma, Cavernous, Central Nervous System / genetics*
Humans
Incidence
KRIT1 Protein
Magnetic Resonance Imaging
Microtubule-Associated Proteins / genetics*
Mutation*
Polymorphism, Genetic
Proto-Oncogene Proteins / genetics*
Switzerland / epidemiology

Substances

KRIT1 Protein
KRIT1 protein, human
Microtubule-Associated Proteins
Proto-Oncogene Proteins