A family with IVIg-responsive Charcot–Marie–Tooth disease

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• 作者：Yasuo Miki (1)
  Masahiko Tomiyama (1)
  Rie Haga (1)
  Haruo Nishijima (1)
  Chieko Suzuki (1)
  Aiichiro Kurihara (2)
  Kazuhiro Sugimoto (3)
  Akihiro Hashiguchi (4)
  Hiroshi Takashima (4)
  Masayuki Baba (1)
  
• 关键词：X ; linked Charcot–Marie–Tooth disease type 1 ; Chronic inflammatory demyelinating polyneuropathy ; IVIg ; GJB1 ; Immune ; mediated demyelination
• 刊名：Journal of Neurology
• 出版年：2013
• 出版时间：April 2013
• 年：2013
• 卷：260
• 期：4
• 页码：1147-1151
• 全文大小：272KB
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• 作者单位：Yasuo Miki (1)
  Masahiko Tomiyama (1)
  Rie Haga (1)
  Haruo Nishijima (1)
  Chieko Suzuki (1)
  Aiichiro Kurihara (2)
  Kazuhiro Sugimoto (3)
  Akihiro Hashiguchi (4)
  Hiroshi Takashima (4)
  Masayuki Baba (1)
  
  1. Department of Neurology, Aomori Prefectural Central Hospital, 2-1-1 Higashitsukurimichi, Aomori, Aomori, 030-8553, Japan
  2. Department of Neurology, Aomori Rosai Hospital, Hachinohe, Aomori, Japan
  3. Diabetes Center, Ohta Nishinouchi Hospital, Koriyama, Fukushima, Japan
  4. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Kagoshima, Japan
  
• ISSN：1432-1459

文摘

We report a family of intravenous immunoglobulin (IVIg)-responsive X-linked Charcot–Marie–Tooth disease Type 1 (CMT1X) with a novel gap junction protein 1 mutation. Two of three siblings in the family complained of subacute motor and sensory impairment, and their symptoms improved after the administration of IVIg. Additional IVIg treatment also resulted in similar improvement. The other also showed a mild improvement on IVIg. It has been suggested that an immune-mediated process is involved in the progression of neuropathy in CMT1X. The finding in our report provides evidence of susceptibility to immune-mediated demyelinating neuropathy in some form of CMT1X. Superimposed demyelinating neuropathy as well as a gradual deterioration of neuropathy over decades can be a clinical manifestation of CMT1X.