Article
Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.
Neurosurgery - 1 Dec 2006
Gault Judith, Sain Stephan, Hu Ling-Jia, Awad Issam A
Abstract excerpt
OBJECTIVE: Cerebral cavernous malformations (CCMs) are focal dysmorphic blood vessel anomalies predisposing individuals to hemorrhagic stroke and epilepsy. CCMs are sporadic or inherited as autosomal dominant disease with three known genes. The hypothesis that genetic heterogeneity would account for the remarkable variability in CCM manifestations was tested. METHODS: CCM cases were prospectively enrolled....
Topics
- Adult
- Colorado
- DNA Mutational Analysis
- Family
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Genotype
- Hemangioma, Cavernous, Central Nervous System
- Heterozygote
- Humans
- KRIT1 Protein
- Male
- Microtubule-Associated Proteins
- Middle Aged
- Polymorphism, Single Nucleotide
- Prevalence
- Proto-Oncogene Proteins