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- Title
Familial cerebral cavernous malformation: report of a further Italian family.
- Authors
Nannucci, Serena; Pescini, Francesca; Poggesi, Anna; Ciolli, Laura; Patrosso, Maria Cristina; Marocchi, Alessandro; Inzitari, Domenico; Penco, Silvana; Pantoni, Leonardo
- Abstract
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and may occur as a sporadic or an autosomal dominant condition. Three genes have been identified as causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3, mapping, respectively, on chromosomes 7q, 7p, and 3q. This is a report on an Italian family affected by CCM due to a KRIT1 gene mutation on exon 13. The mother suffered from a cerebellar hematoma and was severely disabled; one son had suffered from intractable seizures and underwent surgery for removal of a cavernous angioma, while another son was asymptomatic. Brain MRI showed CCMs in all patients. This report underlines that a familial form of CCM could be suspected when a patient presents with multiple CCMs; neurologists and neurosurgeons should be aware that genetic testing for these forms is available.
- Subjects
CARDIOVASCULAR system abnormalities; ETIOLOGY of diseases; HEMORRHAGE; NEUROLOGICAL disorders; HEADACHE; FAMILIAL diseases
- Publication
Neurological Sciences, 2009, Vol 30, Issue 2, p143
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-009-0020-3