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ID 37114
本文ファイル
著者
Imada, Yasutaka
Yuki, Kiyoshi
Migita, Keisuke
Sadatomo, Takashi
Kuwabara, Masashi
Yamada, Toru
キーワード
Cerebral cavernous malformation
Familial cerebral cavernous malformation
Genetic analysis
Japanese
NDC
医学
抄録(英)
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.
掲載誌名
Hiroshima Journal of Medical Sciences
63巻
4号
開始ページ
43
終了ページ
48
出版年月日
2014-12
出版者
Hiroshima University Medical Press
ISSN
0018-2052
NCID
言語
英語
NII資源タイプ
紀要論文
広大資料タイプ
学内刊行物(紀要等)
DCMIタイプ
text
フォーマット
application/pdf
著者版フラグ
publisher
権利情報
Copyright (c) Hiroshima University Medical Press
部局名
医歯薬保健学研究科
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