title: Familial cerebral cavernous malformation: report of a further Italian family.
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.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134, Florence, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Nannucci
authors.forename: Francesca
authors.initials: F
authors.lastname: Pescini
authors.forename: Anna
authors.initials: A
authors.lastname: Poggesi
authors.forename: Laura
authors.initials: L
authors.lastname: Ciolli
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Patrosso
authors.forename: Alessandro
authors.initials: A
authors.lastname: Marocchi
authors.forename: Domenico
authors.initials: D
authors.lastname: Inzitari
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.forename: Leonardo
authors.initials: L
authors.lastname: Pantoni
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D002526:Cerebellar Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D020300:Intracranial Hemorrhages / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D007558:Italy; D000075927:KRIT1 Protein; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins