X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter

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  • Basri Rehana
    Department of Neurology, Hokkaido University Graduate School of Medicine
  • Yabe Ichiro
    Department of Neurology, Hokkaido University Graduate School of Medicine
  • Soma Hiroyuki
    Department of Neurology, Hokkaido University Graduate School of Medicine
  • Matsushima Masaaki
    Department of Neurology, Hokkaido University Graduate School of Medicine
  • Tsuji Sachiko
    Department of Neurology, Hokkaido University Graduate School of Medicine
  • Sasaki Hidenao
    Department of Neurology, Hokkaido University Graduate School of Medicine

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説明

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.<br>

収録刊行物

  • Internal Medicine

    Internal Medicine 46 (13), 1023-1027, 2007

    一般社団法人 日本内科学会

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