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Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
  1. K W Chung1,
  2. B C Suh2,
  3. S Y Cho3,
  4. S K Choi3,
  5. S H Kang1,
  6. J H Yoo4,
  7. J Y Hwang4,
  8. B O Choi3
  1. 1Department of Biological Science, Kongju National University, Gongju, Korea
  2. 2Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea
  3. 3Department of Neurology, Ewha Medical Research Center, Ewha Womans University School of Medicine, Seoul, Korea
  4. 4Department of Radiology, Ewha Womans University School of Medicine, Seoul, Korea
  1. Correspondence to Dr Byung-Ok Choi, Department of Neurology, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong, Yangcheon-ku, Seoul 158-710, Korea; bochoi{at}


Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A prospective brain MRI study was performed on 18 early-onset CMT patients with MFN2 mutations, and a high frequency (39%) of brain abnormalities was found. Early-onset patients showed multiple scattered or confluent brain lesions that involved gray matter as well as white matter. Patterns of brain involvement in early-onset patients differed from those of late-onset patients and other hereditary peripheral neuropathies. In addition, one CMT patient demonstrated a brain lesion before the development of peripheral neuropathy.

  • Charcot-Marie-Tooth disease
  • magnetic resonance image
  • mitofusin 2
  • neuropathy
  • genetics
  • HMSN (Charcot-Marie-Tooth)
  • MRI

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  • Funding This work was supported by the Korea Research Foundation Grant funded by the Korean Government (MEST) (KRF-2008-313-C00750), the Korea Healthcare Technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea (A090500), and the Life Insurance Philanthropy Foundation.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the ethics committee of the Ewha Womans University Hospital.

  • Provenance and peer review Not commissioned; externally peer reviewed.