A pathogenesis study of Perry syndrome

2017 Fiscal Year Annual Research Report

• Project/Area Number: 26860678
• Research Institution: Fukuoka University
• Principal Investigator: 三嶋 崇靖 福岡大学, 医学部, 助教 (00600602)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: Perry症候群 / TDP-43 / DCTN1 / iPS細胞 / トランスジェニックマウス

Outline of Annual Research Achievements

【Perry症候群の臨床研究】
我々は、本邦のFUK-1家系Perry症候群における衝動制御障害について報告し（Mishima T, et al. Parkinsonism Relat Disord. 2015）、本邦のOMT家系患者で、孤発性パーキンソン病に類似したパーキンソニズムがみられることを明らかにした（Mishima T, et al. Parkinsonism Relat Disord.　2016）。また、FUK-1家系とOMT家系患者の嚥下障害について報告した（Umemoto G, et al. Case Rep Neurol. 2017）。更に国際共同研究により、Perry症候群の国際診断基準を作成した（Mishima T, et al. J Neurol Neurosurg Psychiatry. 2018）。
【Perry症候群の基礎研究】
研究代表者の三嶋は、Mayo Clinic Florida，Department of Neuroscience, Dickson研究室で Perry症候群のTDP-43病理やダイナクチン病理の再評価（Mishima T, et al. J Neuropathol Exp Neurol. 2017）および睡眠障害のメカニズムについての検討した（Mishima T, et al. Parkinsonism Relat Disord. 2017）。また、Perry症候群の米国の家系患者からiPS細胞を樹立し、Perry症候群iPS細胞研究についてMayo Clinicと国際共同研究を開始した。更に我々は、Perry症候群G71A変異トランスジェニックマウスを作製し、Perry症候群の症状であるアパシーやパーキンソニズムの一部再現に成功した(Mishima T, et al. Neurosci Lett. 2018)。

Research Products

• [Int'l Joint Research] Department of Neuroscience, Mayo Clinic/Department of Neurology, Mayo Clinic(米国)
  • Country Name: U.S.A.
  • Counterpart Institution: Department of Neuroscience, Mayo Clinic/Department of Neurology, Mayo Clinic
• [Int'l Joint Research] University of British Columbia(カナダ)
  • Country Name: CANADA
  • Counterpart Institution: University of British Columbia
• [Int'l Joint Research]
  • # of Other Countries: 2
• [Journal Article] Establishing diagnostic criteria for Perry syndrome (2018)
  • Author(s): Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y
  • Journal Title: J Neurol Neurosurg Psychiatry Volume: 89 Pages: 482,487
  • DOI: 10.1136/jnnp-2017-316864
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Behavioral defects in a DCTN1 G71A transgenic mouse model of Perry syndrome (2018)
  • Author(s): Mishima T, Deshimaru M, Watanabe T, Kubota K, Kinoshita-Kawada M, Yuasa-Kawada J, Takasaki K, Uehara Y, Jinno S, Iwasaki K, Tsuboi Y
  • Journal Title: Neurosci Lett Volume: 666 Pages: 98,103
  • DOI: 10.1016/j.neulet
  • Peer Reviewed
• [Journal Article] Perry症候群 (2018)
  • Author(s): 三嶋崇靖，坪井義夫
  • Journal Title: Frontiers in Parkinson Disease Volume: 11 Pages: 28,31
• [Journal Article] Dysphagia in Perry syndrome: Pharyngeal pressure in two cases (2017)
  • Author(s): Umemoto G, Tsuboi Y, Furuya H, Mishima T, Fujioka S, Fujii N, Arahata H, Sugahara M, Sakai M
  • Journal Title: Case Rep Neurol Volume: 9 Pages: 161,167
  • DOI: 10.1159/000457900
  • Peer Reviewed / Open Access
• [Journal Article] Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy (2017)
  • Author(s): Mishima T, Kasanuki K, Koga S, Castanedes-Casey M, Wszolek ZK, Tsuboi Y, Dickson DW
  • Journal Title: Parkinsonism Relat Disord Volume: 42 Pages: 85,89
  • DOI: https://doi.org/10.1016/j.parkreldis.2017.06.003
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Perry Syndrome: A Distinctive type of TDP-43 Proteinopathy (2017)
  • Author(s): Mishima T, Koga S, Lin WL, Kasanuki K, Castanedes-Casey M, Wszolek ZK, Oh SJ, Tsuboi Y, Dickson DW
  • Journal Title: J Neuropathol Exp Neurol Volume: 76 Pages: 676,682
  • DOI: 10.1093/jnen/nlx049
  • Peer Reviewed / Int'l Joint Research
• [Presentation] Perry syndrome is a distinctive type of TDP-43 proteinopathy (2017)
  • Author(s): Mishima T, Koga S, Lin WL, Kasanuki K, Castanedes-Casey M, Wszolek ZK, Oh SJ, Tsuboi Y, Dickson DW
  • Organizer: XXIII World Congress of Neurology
  • Int'l Joint Research
• [Presentation] Human iPSC disease modeling of Perry syndrome (2017)
  • Author(s): Mishima T, Ishikawa T, Imamura K, Kondo T, Koshiba Y, Takahashi R, Takahashi J, Watanabe A, Fujii N, Tsuboi Y, Inoue H
  • Organizer: XXIII World Congress of Neurology
  • Int'l Joint Research
• [Presentation] Disease modeling for Perry syndrome using patient induced pluripotent stem cells (2017)
  • Author(s): Mishima T, Ishikawa T, Imamura K, Kondo T, Koshiba Y, Takahashi R, Takahashi J, Watanabe A, Fujii N, Tsuboi Y, Inoue H
  • Organizer: 21th International Congress of Parkinson's Disease and Movement Disorders
  • Int'l Joint Research
• [Presentation] Perry症候群におけるマイネルト基底核のオレキシン染色性の低下 (2017)
  • Author(s): 三嶋 崇靖, 笠貫 浩史, 古賀 俊輔, Monica Castanedes-Casey, Zbigniew K. Wszolek, 坪井 義夫, Dennis W. Dickson
  • Organizer: 第11回パーキンソン病運動障害疾患コングレス