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

2012 Fiscal Year Final Research Report

• Project/Area Number: 22790826
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: Nara 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
• Keywords: 臨床神経形態学 / 筋病理学 / 臨床神経学

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.

Research Products

• [Journal Article] DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions (2013)
  • 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
  • Peer Reviewed
• [Journal Article] Unusual presentation: Unilateral arm and contralateral leg amyotrophy in FSHD (2012)
  • Author(s): Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S
  • Journal Title: Neurology Volume: 79(5) Pages: e46
  • Peer Reviewed
• [Journal Article] Characterization of dermatomyositis with coexistence of anti-Jo-1 and anti-SRP antibodies (2012)
  • Author(s): ugie K, Tonomura Y, Ueno S
  • Journal Title: Intern Med Volume: 51(7) Pages: 799-802
  • Peer Reviewed
• [Journal Article] Chronic severe axonal polyneuropathy associated with hyperthyroidism and multivitamin deficiency (2012)
  • Author(s): Sugie K, Umehara F, Kataoka H, Kumazawa A, Ueno S
  • Journal Title: Neuro Endocrinol Lett Volume: 33(8) Pages: 757-760
  • 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 mutations (2012)
  • 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
  • Peer Reviewed
• [Journal Article] Serial neuroimaging in Tolosa-Hunt syndrome with acute bilateral complete ophthalmoplegia (2011)
  • Author(s): Sugie K, Morikawa M, Taoka T, Hirano M, Ueno S
  • Journal Title: J Neuroimaging Volume: 21(1) Pages: 79-82
  • Peer Reviewed
• [Presentation] A nationwide survey of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF) in Japan (2012)
  • 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
  • Year and Date: 20121011-15
• [Presentation] A neuroimaging study of asymmetric skeletal muscle involvement in facioscapulohumeral muscular dystrophy (2012)
  • 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
  • Year and Date: 20120607-08
• [Presentation] Neuroradiological evaluation of dysphagia as a manifestation of dermatomyositis (2012)
  • 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
  • Year and Date: 20120607-08
• [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
  • Year and Date: 20111011-15
• [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
  • Year and Date: 20101012-16
• [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
  • Year and Date: 20100911-15