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Analysis of genetic back ground and pathomechanism of spinocerebellar degeneration

Research Project

Project/Area Number 15K09344
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionYokohama City University

Principal Investigator

DOI Hiroshi  横浜市立大学, 医学部, 准教授 (10326035)

Co-Investigator(Kenkyū-buntansha) 田中 章景  横浜市立大学, 医学研究科, 教授 (30378012)
田中 健一  横浜市立大学, 医学部, 助教 (50722881)
國井 美紗子  横浜市立大学, 附属病院, 助教 (80725200)
Co-Investigator(Renkei-kenkyūsha) MATSUMOTO Naomichi  横浜市立大学, 医学研究科, 教授 (80325638)
ISHIKAWA Kinya  東京医科歯科大学, 医学部附属病院, 教授 (30313240)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Keywords脊髄小脳変性症 / exome / エクソーム
Outline of Final Research Achievements

In this study, we aimed to identify novel genes responsible for spinocerebellar degeneration (SCD), through the exome analysis of familial or sporadic cases with SCD, who did not have known SCD-related mutations,
As results of exome analysis for an autosomal dominant SCD family, we identified a missense mutation of CACNA1G, encoding voltage gated calcium channel. However, during our study, the mutation was reported as the novel cause of SCD by other groups. We are preparing a paper focused on the pathology of the patients.
As the results of exome analysis for recessive or sporadic SCD cases, we identified four patients from three families of SCD with ERCC4 mutation. We reported ERCC4 mutations as the rare cause of SCD.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (15 results)

All 2018 2017 2016 2015

All Journal Article (11 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 9 results,  Open Access: 4 results,  Acknowledgement Compliant: 2 results) Presentation (3 results) (of which Int'l Joint Research: 1 results) Book (1 results)

  • [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations2018

    • Author(s)
      Doi H、Koyano S、Miyatake S、Nakajima S、Nakazawa Y、Kunii M、Tomita-Katsumoto A、Oda K、Yamaguchi Y、Fukai R、Ikeda S、Kato R、Ogata K、Kubota S、Hayashi N、Takahashi K、Tada M、Tanaka K、Nakashima M、Tsurusaki Y et al.
    • Journal Title

      Journal of Human Genetics

      Volume: 63 Issue: 4 Pages: 417-423

    • DOI

      10.1038/s10038-017-0408-5

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel2018

    • Author(s)
      Kunii M.、Doi H.、Ishii Y.、Ohba C.、Tanaka K.、Tada M.、Fukai R.、Hashiguchi S.、Kishida H.、Ueda N.、Kudo Y.、Kugimoto C.、Nakano T.、Udaka N.、Miyatake S.、Miyake N.、Saitsu H.、Ito Y.、Takahashi K.、Nakamura H.、Tomita-Katsumoto A.、Takeuchi H.、Koyano S.、Matsumoto N.、Tanaka F.
    • Journal Title

      Clinical Genetics

      Volume: - Issue: 2 Pages: 232-238

    • DOI

      10.1111/cge.13371

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies2018

    • Author(s)
      Yahikozawa Hiroyuki、Miyatake Satoko、Sakai Toshiaki、Uehara Takeshi、Yamada Mitsunori、Hanyu Norinao、Futatsugi Yasuhiro、Doi Hiroshi、Koyano Shigeru、Tanaka Fumiaki、Suzuki Atsushi、Matsumoto Naomichi、Yoshida Kunihiro
    • Journal Title

      The Cerebellum

      Volume: 印刷中 Issue: 5 Pages: 525-530

    • DOI

      10.1007/s12311-018-0941-6

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis2018

    • Author(s)
      Tada Mikiko、Doi Hiroshi、Koyano Shigeru、Kubota Shun、Fukai Ryoko、Hashiguchi Shunta、Hayashi Noriko、Kawamoto Yuko、Kunii Misako、Tanaka Kenichi、Takahashi Keita、Ogawa Yuki、Iwata Ryo、Yamanaka Shoji、Takeuchi Hideyuki、Tanaka Fumiaki
    • Journal Title

      The American Journal of Pathology

      Volume: 188 Issue: 2 Pages: 507-514

    • DOI

      10.1016/j.ajpath.2017.10.007

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.2017

    • Author(s)
      Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A.
    • Journal Title

      EMBOJ

      Volume: 36 Issue: 9 Pages: 1227-1242

    • DOI

      10.15252/embj.201695630

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] 孤発性ALSの早期診断2017

    • Author(s)
      土井 宏、田中章景
    • Journal Title

      神経内科

      Volume: 86 Pages: 9-16

    • Related Report
      2016 Research-status Report
  • [Journal Article] Relationship between cortex and pulvinar abnormalities on diffusion-weighted imaging in status epilepticus.2016

    • Author(s)
      Nakae Y, Kudo Y, Yamamoto R, Dobashi Y, Kawabata Y, Ikeda S, Yokoyama M, Higashiyama Y, Doi H, Johkura K, Tanaka F.
    • Journal Title

      J Neurol.

      Volume: 263 Issue: 1 Pages: 127-132

    • DOI

      10.1007/s00415-015-7948-4

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Autosomal recessive spinocerebellar ataxias in Japan2016

    • Author(s)
      田中章景、土井 宏、國井美紗子
    • Journal Title

      Rinsho Shinkeigaku

      Volume: 56 Issue: 6 Pages: 395-399

    • DOI

      10.5692/clinicalneurol.cn-000879

    • NAID

      130005158857

    • ISSN
      0009-918X, 1882-0654
    • Related Report
      2016 Research-status Report
  • [Journal Article] Clinicopathologic features of folate-deficiency neuropathy.2015

    • Author(s)
      Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G.
    • Journal Title

      Neurology

      Volume: 84 Issue: 10 Pages: 1026-1033

    • DOI

      10.1212/wnl.0000000000001343

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis.2015

    • Author(s)
      Kino Y, Washizu C, Kurosawa M, Yamada M, Miyazaki H, Akagi T, Hashikawa T, Doi H, Takumi T, Hicks GG, Hattori N, Shimogori T, Nukina N.
    • Journal Title

      Acta Neuropathol Commun

      Volume: 3 Issue: 1 Pages: 24-24

    • DOI

      10.1186/s40478-015-0202-6

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34.2015

    • Author(s)
      Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
    • Journal Title

      JAMA Neurology

      Volume: 72 Issue: 7 Pages: 797-805

    • DOI

      10.1001/jamaneurol.2015.0610

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Presentation] Exome analysis of autosomal recessive or sporadic cases of cerebellar ataxia and spastic paraplegia.2017

    • Author(s)
      Doi H., Koyano S., Kunii M., Miyatake S., Nakajima S., Hashiguchi S., Ikeda S., Kubota S., Hirama N., Ogawa Y., Takahashi K., Tada M., Tanaka K., Takeuchi H., Matsumoto N., Tanaka F.
    • Organizer
      XXIII World Congress of Neurology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] The clinical and pathological features of autosomal-dominant SCA with CACNA1G mutation.2016

    • Author(s)
      Doi H, Koyano S, Shiina M, Ogata K, Hirashima F, Inoue Y, Hashiguchi S, Kunii M, Kishida H, Yokota T, Mizusawa H, Mitsui J, Tsuji S, Matsumoto N, Ishikawa K and Tanaka F.
    • Organizer
      第57回日本神経学会学術大会
    • Place of Presentation
      神戸国際会議場(兵庫)
    • Related Report
      2016 Research-status Report
  • [Presentation] Late-onset spastic ataxia phenotype related to a novel homozygous DDHD2 mutation.2015

    • Author(s)
      土井宏,吉田邦広,牛山雅夫,谷佳津子,松本直通,田中章景
    • Organizer
      第56回日本神経学会学術大会
    • Place of Presentation
      朱鷺メッセ(新潟)
    • Year and Date
      2015-05-23
    • Related Report
      2015 Research-status Report
  • [Book] 前頭側頭葉変性症療養の手引き 「前頭側頭葉変性症の経過」2017

    • Author(s)
      土井 宏、田中章景
    • Total Pages
      70
    • Publisher
      平成28年度厚生労働科学研究費補助金 難治性疾患等政策研究事業(難治性疾患政策研究事業)「神経変性疾患領域における基盤的調査研究」班
    • Related Report
      2016 Research-status Report

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Published: 2015-04-16   Modified: 2019-03-29  

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