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Study for the clinical features and the pathomechanism of autophagic systems in autophagic vacuolar myopathy

Research Project

Project/Area Number 22790826
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionNara Medical University

Principal Investigator

SUGIE Kazuma  奈良県立医科大学, 神経内科, 講師 (60347549)

Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords臨床神経形態学 / 筋病理学 / 臨床神経学 / オートファジー / ミオパチー / Danon病 / 自己貪食空胞 / 自己貪食空胞性ミオパチー / リソソーム / 縁取り空胞 / 縁取り空胞を伴う遠位型ミオパチー
Research Abstract

Autophagic vacuolar myopathy (AVM) is a very rare progressive muscle disease defined pathologically by the presence of unique autophagic vacuoles inmuscle fibers. The etiology and the pathomechanism of AVM remain unestablished. To gain insights, we performed pathological study and performed a nationwide survey of AVM in Japan. We identified about 50 patients with AVM and elucidated the clinical features of AVM, characterized by lethal cardiomyopathy and skeletal myopathy. Our results indicated that in addition to autophagic/lysosomal pathway, endosomal pathway was also activated. Therefore, we considered that these both pathways may be associated with the degenerative process of muscle fibers in AVM.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (23 results)

All 2013 2012 2011 2010

All Journal Article (11 results) (of which Peer Reviewed: 11 results) Presentation (12 results)

  • [Journal Article] DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions2013

    • Author(s)
      Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, Houzen H, Yabe I, Sasaki H, Noguchi S, Nonaka I, Osawa M, Nishino I
    • Journal Title

      Neuromuscul Disord

      Volume: 23(3) Pages: 269-276

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Unusual presentation: unilateral arm and contralateral leg amyotrophy in facioscapulohumeral muscular dystrophy (FSHD)2013

    • Author(s)
      Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S.
    • Journal Title

      Neurology

      Volume: 79 Issue: 5

    • DOI

      10.1212/wnl.0b013e3182617125

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Unusual presentation: Unilateral arm and contralateral leg amyotrophy in FSHD2012

    • Author(s)
      Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S
    • Journal Title

      Neurology

      Volume: 79(5)

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of dermatomyositis with coexistence of anti-Jo-1 and anti-SRP antibodies2012

    • Author(s)
      ugie K, Tonomura Y, Ueno S
    • Journal Title

      Intern Med

      Volume: 51(7) Pages: 799-802

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Chronic severe axonal polyneuropathy associated with hyperthyroidism and multivitamin deficiency2012

    • Author(s)
      Sugie K, Umehara F, Kataoka H, Kumazawa A, Ueno S
    • Journal Title

      Neuro Endocrinol Lett

      Volume: 33(8) Pages: 757-760

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations2012

    • Author(s)
      Mori-Yoshimura M, Monma K, Suzuki N, Aoki M, Kumamoto T, Tanaka K, Tomimitsu H, Nakano S, Sonoo M, Shimizu J, Sugie K, Nakamura H, Oya Y, Hayashi YK, Malicdan MC, Noguchi S, Murata M, Nishino I
    • Journal Title

      J Neurol Sci

      Volume: 318(1-2) Pages: 100-105

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of Dermatomyositis with Coexistence of Anti-Jo-1 and Anti-SRP Antibodies2012

    • Author(s)
      Sugie K, Tonomura Y, Ueno S
    • Journal Title

      Internal Medicine

      Volume: 51 Issue: 7 Pages: 799-802

    • DOI

      10.2169/internalmedicine.51.6566

    • NAID

      130002061840

    • ISSN
      0918-2918, 1349-7235
    • Related Report
      2012 Annual Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Unusual presentation : unilateral arm and contralateral leg amyotrophy in facioscapulohumeral muscular dystrophy (FSHD)2012

    • Author(s)
      Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S
    • Journal Title

      Neurology

      Volume: (印刷中)(In Press)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Serial neuroimaging in Tolosa-Hunt syndrome with acute bilateral complete ophthalmoplegia2011

    • Author(s)
      Sugie K, Morikawa M, Taoka T, Hirano M, Ueno S
    • Journal Title

      J Neuroimaging

      Volume: 21(1) Pages: 79-82

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Asymmetry of skeletal muscle involvement in facioscapulohumeral muscular dystrophy : A neuroimaging study.2010

    • Author(s)
      Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S.
    • Journal Title

      Neurornuscul Disord.

      Volume: 20 Pages: 665-665

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinicopathological features of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF).2010

    • Author(s)
      Sugie K, Kimura A, Komaki H, Kaneda D, Nonaka I, Ueno S, Nishino I.
    • Journal Title

      Brain Pathology.

      Volume: 20 Pages: 93-93

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] A nationwide survey of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF) in Japan2012

    • Author(s)
      Sugie K, Komaki H, Kaneda D, Kurashige T, Kimura A, Matsumoto M, Ueno S, Nishino I
    • Organizer
      The 17th International Congress of World Muscle Society
    • Place of Presentation
      Perth, Australia
    • Related Report
      2012 Final Research Report
  • [Presentation] A neuroimaging study of asymmetric skeletal muscle involvement in facioscapulohumeral muscular dystrophy2012

    • Author(s)
      Sugie K, Hayashi YK, Goto K, Eura N, Nonaka I, Nishino I, Ueno S
    • Organizer
      The 11th Annual Meeting of the Asian and Oceanian Myology Center
    • Place of Presentation
      Kyoto, Japan
    • Related Report
      2012 Final Research Report
  • [Presentation] Neuroradiological evaluation of dysphagia as a manifestation of dermatomyositis2012

    • Author(s)
      Eura N, Sugie K, Kiriyama T, Kataoka H, Ueno S
    • Organizer
      Neuroradiological evaluation of dysphagia as a manifestation of dermatomyositis
    • Place of Presentation
      Kyoto, Japan
    • Related Report
      2012 Final Research Report
  • [Presentation] 自己貪食空胞性ミオパチーの全国実態調査による解析2012

    • Author(s)
      杉江和馬、木村彰方、小牧宏文、金田大太、倉重毅志、松本昌泰、上野 聡、西野一三
    • Organizer
      第53回日本神経学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] A nationwide survey of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF) in Japan2012

    • Author(s)
      Sugie K, Komaki H, Kaneda D,  Kurashige T, Matsumoto M, Nonaka I, Ueno S, Nishino I.
    • Organizer
      17th International Congress of World Muscle Society
    • Place of Presentation
      Perth, Australia
    • Related Report
      2012 Annual Research Report
  • [Presentation] Clinicopathological and genetical features of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF)2011

    • Author(s)
      Sugie K,Kurashige T, Kaneda D, Kimura A, Komaki H, Matsumoto M, Ueno S, Nishino I
    • Organizer
      The 12th International Congress of Human Genetics (ICHG)
    • Place of Presentation
      Montreal, Canada
    • Related Report
      2012 Final Research Report
  • [Presentation] 自己貪食空胞性ミオパチーの臨床病理学的解析と全国実態調査2011

    • Author(s)
      杉江和馬、木村彰方、小牧宏文、金田大太、上野聡、西野一三
    • Organizer
      第52回日本神経学会学術集会
    • Place of Presentation
      名古屋市
    • Related Report
      2011 Annual Research Report
  • [Presentation] Clinicopathological and genetical features of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF)2011

    • Author(s)
      Sugie K, Kimura A, Komaki H, Kaneda D, Nonaka I, Ueno S, Nishino I
    • Organizer
      The 12th International Congress of Human Genetics
    • Place of Presentation
      Montreal, Canada
    • Related Report
      2011 Annual Research Report
  • [Presentation] Clinicopathological features of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF)2010

    • Author(s)
      ugie K, Kimura A, Komaki H, Kaneda D, Nonaka I, Ueno S, Nishino I
    • Organizer
      The 17th International Congress of Neuropathology
    • Place of Presentation
      Salzburg, Austria
    • Related Report
      2012 Final Research Report
  • [Presentation] Asymmetry of skeletal muscle involvement in facioscapulohumeral muscular dystrophy: A neuroimaging study2010

    • Author(s)
      Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S
    • Organizer
      The 15th International Congress of the World Muscle Society (WMS)
    • Place of Presentation
      Kumamoto, Japan
    • Related Report
      2012 Final Research Report
  • [Presentation] Asymmetry of skeletal muscle involvement in facioscapulohumeral muscular dystrophy : A neuroimaging study.2010

    • Author(s)
      Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S.
    • Organizer
      The 15th International Congress of the World Muscle Society (WMS)
    • Place of Presentation
      Kumamoto, Japan
    • Related Report
      2010 Annual Research Report
  • [Presentation] Clinicopathological features of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF).2010

    • Author(s)
      Sugie K, Kimura A, Komaki H, Kaneda D, Nonaka I, Ueno S, Nishino I.
    • Organizer
      The 17th International Congress of Neuropathology
    • Place of Presentation
      Salzburg, Austria
    • Related Report
      2010 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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