The overseas scientific research for the elucidation of the mechanism of a novel familial motor neuron disease with sensory neuropathy originated in Japan

2014 Fiscal Year Final Research Report

• Project/Area Number: 24406030
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 海外学術
• Research Field: Neurology
• Research Institution: Kyoto Prefectural University of Medicine
• Principal Investigator: NAKAGAWA Masanori 京都府立医科大学, 医学(系)研究科(研究院), 教授 (50198040)
• Co-Investigator(Kenkyū-buntansha): IZUMO Shuji 鹿児島大学, 医歯学総合研究科, 教授 (30143811) ; KAJI Ryuji 徳島大学, ヘルスバイオサイエンス研究部, 教授 (00214304) ; TAKASHIMA Hiroshi 鹿児島大学, 医歯学総合研究科, 教授 (80372803) ; SHIGA Kensuke 京都府立医科大学, 医学研究科, 准教授 (90336751)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 脳神経疾患 / 遺伝子 / 神経科学 / 分子遺伝学 / 運動ニューロン病 / TFG遺伝子

Outline of Final Research Achievements

The hereditary motor sensory neuropathy with proximal dominancy (HMSN-P) is a slowly progressive intractable disease and some patients eventually require a tracheostomy with artificial ventilation, mimicking the clinical course of familial amyotrophic lateral sclerosis (FALS). The gene locus has been mapped on the chromosome 3; and the causative gene has been identified, TRK-fused gene (TFG). The purpose of this research is to clarify the global epidemiology, pathomechanism and therapeutic strategy for HMSN-P in collaboration with scientists in Brazil, Italy, USA and Korea. As we expected, new cases with TFG mutations are reported from Germany, Korea, Taiwan, USA and Brazil. We held International Hereditary Neuropathy Symposium in Kyoto at August 31, 2014 and discussed the pathological mechanism of HMSN-P. We agreed with the scientists that TGF mutation closely link with motor neuron disorders like FALS.

Free Research Field

神経内科学