Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Cerebral cavernous malformations].

Jeanette Koht1, Geir J Braathen, Dirk Neubert

  • 1Nevrologisk avdeling, Akershus universitetssykehus, 1478 Lørenskog. jeanette.koht@ahus.no

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|August 16, 2005
PubMed
Summary

Cerebral cavernous malformations (CCMs) have sporadic and familial forms with varying symptoms. Familial CCMs display genetic and clinical diversity, impacting management strategies.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Needs-based epilepsy follow-up: seizure control, treatment adherence and patient care.

Epilepsy & behavior : E&B·2026
Same author

[Functional neurological disorder].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2025
Same author

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Brain : a journal of neurology·2025
Same author

Impact of genetic testing in developmental and epileptic encephalopathy- parents' perspective.

Epilepsy & behavior : E&B·2024
Same author

Iatrogenic botulism.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2024
Same author

A woman in her forties with ear pain.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2024

Area of Science:

  • Neuroscience
  • Genetics
  • Vascular Malformations

Background:

  • Cerebral cavernous malformations (CCMs) present as sporadic and familial conditions.
  • These disorders exhibit significant genetic and clinical heterogeneity.
  • Improved understanding is crucial for enhanced patient management.

Purpose of the Study:

  • To review the current understanding of cerebral cavernous malformations.
  • To highlight the genetic and clinical heterogeneity of CCMs.
  • To discuss diagnostic and symptomatic aspects.

Main Methods:

  • Review of personal experience.
  • Synthesis of recent scientific literature.

Main Results:

Related Experiment Videos

  • CCMs are venous malformations detectable via gradient echo MRI.
  • Sporadic CCMs affect ~0.5% of the population, often asymptomatic.
  • Familial CCMs, linked to autosomal dominant inheritance, involve multiple malformations and identified genetic loci (CCM1, CCM2, CCM3).
  • Symptoms include seizures, hemorrhage, headache, and deficits, with onset typically between 20-40 years, though variable.
  • KRIT1 and MGC4607 genes are associated with CCM1 and CCM2, respectively; the CCM3 gene remains unidentified.

    • Conclusions:

    • Sporadic CCMs are frequently asymptomatic.
    • Familial CCMs demonstrate significant phenotypic and genetic variability.
    • Symptomatology is contingent upon malformation location and presence of hemorrhage.