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Analysis of ARSG gene and treatment outcome in patients with task specific focal dystonia

Research Project

Project/Area Number 18K16575
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 56010:Neurosurgery-related
Research InstitutionTokyo Women's Medical University

Principal Investigator

Horisawa Shiro  東京女子医科大学, 医学部, 助教 (10746796)

Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsジストニア / アリルサルファターゼG遺伝子
Outline of Final Research Achievements

We tested 24 patients with task specific focal dystonia for changes in Arylsulfatase G(ARSG) and other dystonia-related genes. 6 patients showed genetic variants indicating Combined Annotation-Dependent Depletion score of 10 or higher. ARSG mutations in exon 5 (Ala180Val) and exon 6 (Arg233His) in 2 patients and THAP1 muation in exon 1 (Gln3Pro) in 1 patient were confirmed. Task specific oral dystonia (Embouchure dystonia) showed DRD mutation in exon 2 (Val200Ala). Task specific focal dystonia can be an initial symptom of hereditary generalized dystonia. Confirmation of genetic mutations related to dystonia is a useful of prognostic prediction and treatment strategy.

Academic Significance and Societal Importance of the Research Achievements

動作特異的局所ジストニアでは、アリルサルファターゼG遺伝子変異を持つ頻度は低く、その他の遺伝子変異が関与している可能性がある。また、遺伝性全身性ジストニアの初発症状として、動作特異的局所ジストニアが出現することがある。幅広いジストニア関連遺伝子を検索することは、疾患の予後予測や治療方針の検討に有用である。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (9 results)

All 2020 2019 2018

All Journal Article (4 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 4 results,  Open Access: 2 results) Presentation (5 results) (of which Int'l Joint Research: 4 results,  Invited: 5 results)

  • [Journal Article] Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases2020

    • Author(s)
      Horisawa Shiro、Azuma Kenkou、Akagawa Hiroyuki、Nonaka Taku、Kawamata Takakazu、Taira Takaomi
    • Journal Title

      Annals of Clinical and Translational Neurology

      Volume: 7 Issue: 10 Pages: 2047-2051

    • DOI

      10.1002/acn3.51170

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The striking effects of deep cerebellar stimulation on generalized fixed dystonia: case report2020

    • Author(s)
      Horisawa Shiro、Arai Takashi、Suzuki Naoki、Kawamata Takakazu、Taira Takaomi
    • Journal Title

      Journal of Neurosurgery

      Volume: 132 Issue: 3 Pages: 712-716

    • DOI

      10.3171/2018.11.jns182180

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Safety and long-term efficacy of ventro-oral thalamotomy for focal hand dystonia: A retrospective study of 171 patients.2019

    • Author(s)
      Horisawa S, Ochiai T, Goto S, Nakajima T, Takeda N, Fukui A, Hanada T, Kawamata T, Taira T.
    • Journal Title

      Neurology

      Volume: 4 Issue: 4 Pages: 371-377

    • DOI

      10.1212/wnl.0000000000006818

    • Related Report
      2019 Research-status Report 2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Pallidothalamic Tractotomy (Forel's Field H1-tomy) for Dystonia: Preliminary Results2019

    • Author(s)
      Horisawa S, Fukui A, Tanaka Y, Wendong L, Yamahata H, Kawamata T, Taira T
    • Journal Title

      World Neurosurgery

      Volume: 4 Pages: e851-e856

    • DOI

      10.1016/j.wneu.2019.06.055

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Presentation] Radiofrequency lesioning for movement disorders2020

    • Author(s)
      Shiro Horisawa
    • Organizer
      12th Scientific meeting of Asian Australasian Society of Stereotactic and Functional Neurosurgery
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Radiofrequency Lesioning for Movement Disorders2019

    • Author(s)
      Shiro Horisawa
    • Organizer
      The 18th Meeting of the World Society for Stereotactic and Functional Neurosurgery
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Surgical treatment of dystonia and other hyperkinetic disorders2019

    • Author(s)
      Shiro Horisawa
    • Organizer
      The 6th HongKong Neurological Congress
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Focused ultrasound ventro-oral thalamotomy for focal hand dystonia2019

    • Author(s)
      Shiro Horisawa
    • Organizer
      集束超音波研究会
    • Related Report
      2019 Research-status Report
    • Invited
  • [Presentation] Past, Present and Future in Dystonia2018

    • Author(s)
      Shiro Horisawa
    • Organizer
      Russia Functional Neurosurgery Meeting
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research / Invited

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Published: 2018-04-23   Modified: 2022-01-27  

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