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• Vol.51 No.11
• CLINICA NEUROL, 51: 1015−1018, 2011
• Vol.51 No.11 contents

Symposium 17

Therapeutic strategies for Charcot-Marie-Tooth disease

Masanori Nakagawa, M.D.

Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine

Recently, causative gene discovery and genetic diagnosis system for Charcot-Marie-Tooth disease (CMT) have been rapidly developed. These genetic information and research progress, however, have not been informed to medical staff and CMT patients. CMT-Japan, which is an association of Japanese CMT patients, has been organized in 2008. Many of CMTJ members have not been diagnosed genetically. Most of medical staff and CMT patients may imagine that there is no hope for the CMT feature. Research on CMT therapy, however, has been progressing such as clinical trial of ascorbic acid, and experimental trial of curcumin and antiprogesterone. The development of robot technology and brain machine interface open a new way of therapy for CMT. Elucidation of molecular mechanisms and finding of effective treatments for CMT using cell culture, iPS cell, animal model, agents to suppress PMP22 expression, and read-through of stop codon methods are expected in the near features. In addition, development of surrogate markers, improvement of clinical trial design, establishment of nationwide diagnostic system, and assessment of natural history with international collaboration study must be done as soon as possible. CMT management manual, review of CMT research, open seminar for CMT, and genetic counseling are essential to improve the medical management for CMT. The collaboration among medical engineers, neurophysiologists, rehabilitation team, orthopedist, neurologists, genetic researchers and CMT patients and their families is of cardinal importance to achieve these studies for CMT.
Full Text of this Article in Japanese PDF (254K)

(CLINICA NEUROL, 51: 1015−1018, 2011)
key words: CMT, genetic diagnosis, therapy, rehabilitation, brain machine interface

(Received: 19-May-11)