title: Discovery of familial cerebral cavernous malformation in a Saudi population.
abstract: 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.
authors.affiliation: Department of Neurology, NNI, Riyadh, Saudi Arabia.
authors.forename: Shahpar
authors.initials: S
authors.lastname: Nahrir
authors.forename: Majed H
authors.initials: MH
authors.lastname: Al-Hameed
authors.forename: Omar A
authors.initials: OA
authors.lastname: Al-Sinaidi
authors.forename: Wafa
authors.initials: W
authors.lastname: Al Shakweer
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002941:Circle of Willis / Q000002:abnormalities / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics; D059906:Neuroimaging; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012529:Saudi Arabia / Q000453:epidemiology; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins