title: A Japanese pedigree of familial cerebral cavernous malformations--a case report.
abstract: Familial cerebral cavernous malformations (FCCM) are autosomal-dominant vascular malformations. At present, 3 cerebral cavernous malformation genes (KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) have been identified. Few genetic analyses of Japanese FCCM have been reported. A Japanese pedigree of 4 patients with FCCM has been reported that includes the genetic analysis of one of the patients. All 4 patients showed multiple lesions in the brain. Surgical removal was performed at our hospital due to enlargement or hemorrhage of the intracranial lesions in a 21-year-old female (Case 1) and a 30-year-old male (Case 2). The histological diagnoses were cavernous malformations. A 62-year-old female (Case 4), the mother of Cases 1, 2, and 3, suffered from intramedullary hemorrhage at T6-7 and surgical removal was performed at another hospital. Only one patient, a 32-year-old female (Case 3), did not show symptoms. The genetic analysis of Case 2 demonstrated heterozygous partial deletions of exons 12-15 of the KRIT1 gene.
authors.forename: Yasutaka
authors.initials: Y
authors.lastname: Imada
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Yuki
authors.forename: Keisuke
authors.initials: K
authors.lastname: Migita
authors.forename: Takashi
authors.initials: T
authors.lastname: Sadatomo
authors.forename: Masashi
authors.initials: M
authors.lastname: Kuwabara
authors.forename: Toru
authors.initials: T
authors.lastname: Yamada
authors.forename: Kaoru
authors.initials: K
authors.lastname: Kurisu
mesh_terms: D000328:Adult; D044466:Asian People; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000473:pathology; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins