Transthyretin Variant Amyloidosis with a <i>TTR</i> A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy

  • Ikeda Kazuna
    Department of Neurology, Sapporo Medical University School of Medicine, Japan
  • Yamamoto Daisuke
    Department of Neurology, Sapporo Medical University School of Medicine, Japan Department of Neurology, Sunagawa City Medical Center, Japan
  • Usui Keiko
    Department of Systems Neuroscience, Sapporo Medical University School of Medicine, Japan
  • Takeuchi Hiroki
    Department of Neurology, National Hospital Organization Minami Kyoto Hospital, Japan
  • Oka Nobuyuki
    Kyoto Konoe Rehabilitation Hospital, Japan
  • Katoh Nagaaki
    Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
  • Yazaki Masahide
    Institute for Biomedical Sciences, Shinshu University, Japan Clinical Laboratory Sciences Division, Shinshu University Graduate School of Medicine, Japan
  • Kametani Fuyuki
    Tokyo Metropolitan Institute of Medical Science, Japan
  • Nishino Ichizo
    Department of Neuromuscular Research, National Institute of Neuroscience, and Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Japan
  • Hisahara Shin
    Department of Neurology, Sapporo Medical University School of Medicine, Japan

抄録

<p>We herein report a 68-year-old Japanese man with sporadic variant transthyretin (ATTRv) amyloidosis harboring the novel variant A97D (p.A117D) in TTR. He had slow development of asymmetric neuropathy, unintentional weight loss, mild autonomic failure and mild cardiomyopathy. TTR amyloid deposition on the gastric duodenal mucosa was detected. In silico analyses predicted that TTR A97D (p.A117D) altered the structure and function of the TTR protein. ATTRv amyloidosis is often difficult to diagnose in non-endemic regions due to its diverse phenotypes, such as atypical peripheral nerve involvement and a rare family history. </p>

収録刊行物

  • Internal Medicine

    Internal Medicine 62 (15), 2261-2266, 2023-08-01

    一般社団法人 日本内科学会

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