Cerebral cavernous malformations 1

Common Name(s)

Cerebral cavernous malformations 1

Cerebral cavernous malformations 1 is a condition caused by a mutation in the KRIT1 gene. Cerebral cavernous malformations are collections of small blood vessels in the brain that are enlarged or irregular in structure. These vessels have very thin walls, which means they often leak and can cause health problems. Symptoms may include: headaches, paralysis, seizures, hearing or vision loss, memory loss, and bleeding in the brain (cerebral hemorrhage), which could result in death. Some people never have any health problems or symptoms. The severity of cerebral cavernous malformations depends on their location and the number present, both of which can change over time. This condition affects about 0.5 percent of the population worldwide. This condition can occur in individuals who have no family history of having it (sporadic), or can be passed from parents to children in an autosomal dominant pattern, meaning that if one of the parents has it, there is a 50% chance their child will have it too. CT scans, MRIs, and blood tests can be used to diagnose this condition. Treatment may include surgery to remove the affected blood vessels, or medication to control symptoms (for example, antiepileptic drugs for seizures).

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebral cavernous malformations 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cerebral cavernous malformations 1" returned 2 free, full-text research articles on human participants. First 3 results:

Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
 

Author(s): Oriana S Fisher, Weizhi Liu, Rong Zhang, Amy L Stiegler, Sondhya Ghedia, James L Weber, Titus J Boggon

Journal: J. Biol. Chem.. 2015 Jan;290(5):2842-53.

 

Familial cerebral cavernous malformations (CCMs) are predominantly neurovascular lesions and are associated with mutations within the KRIT1, CCM2, and PDCD10 genes. The protein products of KRIT1 and CCM2 (Krev interaction trapped 1 (KRIT1) and cerebral cavernous malformations 2 (CCM2), ...

Last Updated: 30 Jan 2015

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Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.
 

Author(s): Marta Melis, Milena Cau, Simona Corraine, Simona Secci, Maria Addis, Maurizio Melis

Journal: Cerebrovasc. Dis.. 2014 ;38(4):311-2.

 

Last Updated: 4 Dec 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cerebral cavernous malformations 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.