＜シンポジウム17―2＞難治性末梢神経疾患の治療戦略
Charcot-Marie-Tooth病の治療戦略
中川 正法
京都府立医科大学大学院神経内科学〔〒602―0841 京都市上京区河原町通広小路上ル梶井町465〕
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)
(臨床神経, 51：1015−1018, 2011)
key words：CMT，遺伝子診断，治療，リハビリテーション，ブレインマシンインターファイエス
（受付日：2011年5月19日）
