{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T17:10:02Z","timestamp":1745773802518,"version":"3.40.4"},"reference-count":19,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time. Both the index patients had a seizure as a prominent manifestation of their underlying structural lesion. One of them had recurrent attacks of bleeding in the cavernoma leading to a focal neurological deficit. The siblings and the parents of both the patients were screened using CT of the brain imaging. Two members within each family were found to have symptomatic cavernoma. A molecular genetics study revealed heterozygous KRIT1\/CCM1 for a frameshift mutation in one of the patients. No detectable mutation was found in the other patient. These cases illustrate the existence of this condition beyond the commonly known geographical area of higher prevalence. Moreover, KRIT1\/CCM1 might be the possible target gene that is mutated in this region.<\/jats:p>","DOI":"10.1136\/bcr-2013-009417","type":"journal-article","created":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T11:03:31Z","timestamp":1385031811000},"page":"bcr2013009417","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Discovery of familial cerebral cavernous malformation in a Saudi population"],"prefix":"10.1136","volume":"2013","author":[{"given":"Shahpar","family":"Nahrir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majed H","family":"Al-Hameed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omar A","family":"Al-Sinaidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wafa","family":"Al Shakweer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,11,21]]},"reference":[{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.1","unstructured":"Morrison L, Akers A. Cerebral cavernous malformation, familial, 2003 Feb 24 (updated 2011 May 31). In: Pagon RA, Adam MP, Bird TD, et al, eds. GeneReviews [Internet]. Seattle: University of Washington, 1993\u20132013."},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.2","first-page":"82","article-title":"131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies","volume":"2013","author":"Otten","year":"1989","journal-title":"Neurochirurgie"},{"issue":"(10 Suppl)","key":"2025042709404131000_2013.nov21_1.bcr2013009417.3","first-page":"S92","article-title":"Evaluating strategies for the treatment of cerebral cavernous malformations","volume":"2013","author":"Li","year":"2010","journal-title":"Stroke"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.4","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/S1474-4422(07)70053-4","article-title":"Genetics of cavernous angiomas","volume":"2013","author":"Labauge","year":"2007","journal-title":"Lancet Neurol"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.5","unstructured":"Database: Omim; Entry: 116860; title: #116860 cerebral cavernous malformations; ccm."},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.6","doi-asserted-by":"crossref","first-page":"720","DOI":"10.3171\/jns.1986.64.5.0720","article-title":"Intracranial cavernous angioma: presentation and management","volume":"2013","author":"Tagle","year":"1986","journal-title":"J Neurosurg"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.7","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1148\/radiology.214.1.r00ja19209","article-title":"Familial form of intracranial cavernous angioma: MR imaging findings in 51 families. French Society of Neurosurgery","volume":"2013","author":"Brunereau","year":"2000","journal-title":"Radiology"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.8","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1136\/jnnp.2007.132316","article-title":"Cerebral cavernous malformations: congruency of histopathological features with the current clinical definition","volume":"2013","author":"Frischer","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.9","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1136\/jnnp.71.2.188","article-title":"Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations","volume":"2013","author":"Clatterbuck","year":"2001","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.10","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3171\/2011.8.JNS101241","article-title":"Cerebral cavernous malformations: from genes to proteins to disease","volume":"2013","author":"Cavalcanti","year":"2012","journal-title":"J Neurosurg"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.11","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1111\/j.1742-4658.2009.07535.x","article-title":"Recent insights into cerebral cavernous malformations: the molecular genetics of CCM","volume":"2013","author":"Riant","year":"2010","journal-title":"FEBS J"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.12","first-page":"200","article-title":"Multiple cerebral cavernous haemangiomas in an infant","volume":"2013","author":"Verma","year":"2012","journal-title":"J Pediatr Neurosci"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.13","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1056\/NEJM199604113341503","article-title":"A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans","volume":"2013","author":"Gunel","year":"1996","journal-title":"N Engl J Med"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.14","doi-asserted-by":"crossref","first-page":"422","DOI":"10.3171\/jns.1994.80.3.0422","article-title":"The natural history of familial cavernous malformations: results of an ongoing study","volume":"2013","author":"Zabramski","year":"1994","journal-title":"J Neurosurg"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.15","doi-asserted-by":"crossref","first-page":"12640","DOI":"10.1073\/pnas.1000132107","article-title":"Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling","volume":"2013","author":"W\u00fcstehube","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.16","doi-asserted-by":"crossref","first-page":"2325","DOI":"10.1093\/hmg\/8.12.2325","article-title":"Mutations in the gene encoding KRIT1, a Krev-1\/rap1a binding protein, cause cerebral cavernous malformations (CCM1)","volume":"2013","author":"Sahoo","year":"1999","journal-title":"Hum Mol Genet"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.17","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1212\/WNL.48.3.752","article-title":"Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent","volume":"2013","author":"Polymeropoulos","year":"1997","journal-title":"Neurology"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.18","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/ana.10804","article-title":"Clinical features of cerebral cavernous malformations patients with KRIT1 mutations","volume":"2013","author":"Denier","year":"2004","journal-title":"Ann Neurol"},{"key":"2025042709404131000_2013.nov21_1.bcr2013009417.19","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1001\/archneur.64.6.843","article-title":"Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation","volume":"2013","author":"Battistini","year":"2007","journal-title":"Arch Neurol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-009417","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T16:40:52Z","timestamp":1745772052000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-009417"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,21]]},"references-count":19,"alternative-id":["10.1136\/bcr-2013-009417"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-009417","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,11,21]]}}}