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

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Abstract

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.

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Acknowledgments

We thank the family described in this report for their cooperation. We also thank Ms. A. Yoshimura of Kagoshima University for her excellent technical assistance. This study was supported in part by grants from the Nervous and Mental Disorders and Research Committee for Charcot–Marie–Tooth Disease, Neuropathy, Ataxic Disease, and Research on Applying Health Technology of the Japanese Ministry of Health, Welfare, and Labor (H.T.).

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We declare no conflict of interest.

Ethical standard

This study was conducted with the approval of the Aomori Prefectural Central Hospital ethical committee.

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Correspondence to Yasuo Miki.

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Miki, Y., Tomiyama, M., Haga, R. et al. A family with IVIg-responsive Charcot–Marie–Tooth disease. J Neurol 260, 1147–1151 (2013). https://doi.org/10.1007/s00415-012-6782-1

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  • DOI: https://doi.org/10.1007/s00415-012-6782-1

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