Functional analysis of DCTN1 as a Parkinson disease related gene

2012 Fiscal Year Final Research Report

• Project/Area Number: 22590947
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: Fukuoka University
• Principal Investigator: TSUBOI Yoshio 福岡大学, 医学部, 教授 (90291822)
• Co-Investigator(Kenkyū-buntansha): YAMADA Tatsuo 福岡大学, 医学部, 教授 (50142211)
• Project Period (FY): 2010 – 2012
• Keywords: 家族制パーキンソン病 / ダイナクチン / Perry 症候群 / TDP-43

Research Abstract

Perry syndrome is characterized by autosomal dominant parkinsonism with mental depression, weight loss and central hypoventilation. It has been thought to be rare disorder, however, after our first report from Japan in 2002, newly discovered families with this syndrome has been discovered throughout the world. DCTN1 gene is identified as a causative gene for Perry syndrome in 2009. Our purpose is to characterize this syndrome clinically and pathologically, in addition, to analyze function andpathogenesis of DCTN1 as a Parkinson disease related gene.

Research Products

• [Journal Article] Autosomal dominant tauopathy with parkinsonism and central hypoventilation. (2012)
  • Author(s): Omoto M, Suzuki S, Ikeuchi T, Ishihara T, Kobayashi T, Tsuboi Y, Ogasawara J, Koga M, Kawai M, Iwaki T, Kanda T.
  • Journal Title: Neurology Volume: 78巻 Pages: 762-764
  • Peer Reviewed
• [Journal Article] Perry 症候群-始まりは一人の患者から (2012)
  • Author(s): 坪 井義夫
  • Journal Title: Medical Science Digest Volume: 38 Pages: 2-4
• [Journal Article] Autonomic failures in Perry syndrome with DCTN1 mutation (2010)
  • Author(s): Ohshima S, Tsuboi Y, Yamamoto A, Kawakami M, Farrer MJ, Kira J, Shii H.
  • Journal Title: Parkinsonism and Related Disorders Volume: 16巻 Pages: 612-614
  • Peer Reviewed
• [Journal Article] Perry症候群 (2010)
  • Author(s): 坪井義夫、山田達夫
  • Journal Title: MDSJLetters Volume: 3巻 Pages: 2-6
• [Journal Article] 臨床医のための神経病理 Perry 症候群 (2010)
  • Author(s): 坪 井義夫
  • Journal Title: Clinical Neuroscience Volume: 28 Pages: 366-367
• [Journal Article] 神経情報伝達と疾患Dynactin変異とPerry症候群モータータンパクと神経変性 (2010)
  • Author(s): 坪井義夫
  • Journal Title: 実験医学 Volume: 28 Pages: 746-768
• [Journal Article] Wszolek ZKElucidating the genetics and pathology of Perry syndrome. (2010)
  • Author(s): Wider C, Dachsel JC, Farrer MJ, DicksonDW, Tsuboi Y
  • Journal Title: J Neurol Sci. Volume: 289巻 Pages: 149-154
  • Peer Reviewed
• [Presentation] Japanese families with Perry syndrome:clinico-genetical aspects. (2013)
  • Author(s): Yoshio Tsuboi
  • Organizer: Mayo Clinic Department of Neuroscience 8500Seminar Series. Genetic form of Parkinson's Disease Mayo Clinic Jacksonville
  • Place of Presentation: Florida, USA
  • Year and Date: 2013-03-22
• [Presentation] TsuboiGenetic form of Parkinson's Disease Perry syndrome (2013)
  • Author(s): Yoshio
  • Organizer: Japan Seminar for Neurologic Disorders in Osaka
  • Place of Presentation: NewHankyu Hotel, Osaka
  • Year and Date: 2013-02-16
• [Presentation] Reevaluation of a Japanese family with Perry syndrome (2011)
  • Author(s): Tsuboi Y, Mishima T, Inoue H, Neshige R, Yamada T
  • Organizer: The 63th American Academy of Neurology
  • Place of Presentation: Honolulu, Hawaii
  • Year and Date: 2011-04-19
• [Presentation] Perry syndrome in Japan. (2011)
  • Author(s): Yoshio Tsuboi
  • Organizer: International symposium on motor neuron disease and Perry syndrome in Tokyo.
  • Place of Presentation: Arcadia Tokyo
  • Year and Date: 2011-02-22