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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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Title: X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter
Authors: Basri, Rehana Browse this author
Yabe, Ichiro Browse this author →KAKEN DB
Soma, Hiroyuki Browse this author
Matsushima, Masaaki Browse this author
Tsuji, Sachiko Browse this author
Sasaki, Hidenao Browse this author
Keywords: gap junction protein β1
connexin 32
hereditary demyelinating neuropathy
magnetic resonance imaging
X-linked Charcot-Marie-Tooth disease
Issue Date: 2007
Publisher: 社団法人 日本内科学会
Journal Title: Internal Medicine
Volume: 46
Issue: 13
Start Page: 1023
End Page: 1027
Publisher DOI: 10.2169/internalmedicine.46.0047
PMID: 17603245
Abstract: 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.
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 矢部 一郎

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