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X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter

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タイトル: X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter
著者: Basri, Rehana 著作を一覧する
Yabe, Ichiro 著作を一覧する
Soma, Hiroyuki 著作を一覧する
Matsushima, Masaaki 著作を一覧する
Tsuji, Sachiko 著作を一覧する
Sasaki, Hidenao 著作を一覧する
キーワード: gap junction protein β1
connexin 32
hereditary demyelinating neuropathy
magnetic resonance imaging
X-linked Charcot-Marie-Tooth disease
発行日: 2007年
出版者: 社団法人 日本内科学会(Japanese Society of Internal Medicine)
誌名: Internal Medicine
巻: 46
号: 13
開始ページ: 1023
終了ページ: 1027
出版社 DOI: 10.2169/internalmedicine.46.0047
抄録: Charcot-Marie-Tooth neuropathy (CMT) is an inherited degenerative disorder of the peripheral nervous system that results in slowly progressive distal muscle weakness, atrophy and loss of proprioception in the affected areas. X-linked CMT (CMTX) has been localized to the pericentric region of the X chromosome. CMTX neuropathy is usually associated with mutations in exon 2 of the gap junction protein β1 (GJB1) gene. GJB1 is a gap junction protein expressed in various cells including oligodendrocytes, astrocytes and myelinating schwann cells. Here, we report a female case of CMTX with a GJB1 mutation. The patient was severely clinically affected and exhibited both the features of demyelination and axonopathy. This is the first female patient with CMTX who showed permanent atypical scattered lesions in cerebral white matter of the brain on T2-weighted magnetic resonance images (MRI), which is very rare. The existence of a female patient with severe clinical symptoms may show that gain of function mechanism also leads to the disorders seen in these patients.
資料タイプ: article (author version)
URI: http://hdl.handle.net/2115/25175
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 矢部 一郎

 

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