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

Kazuna Ikeda; Daisuke Yamamoto; Keiko Usui; Hiroki Takeuchi; Nobuyuki Oka; Nagaaki Katoh; Masahide Yazaki; Fuyuki Kametani; Ichizo Nishino; Shin Hisahara

doi:10.2169/internalmedicine.0798-22

CASE REPORTS

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

Kazuna Ikeda, Daisuke Yamamoto, Keiko Usui, Hiroki Takeuchi, Nobuyuki Oka, Nagaaki Katoh, Masahide Yazaki, Fuyuki Kametani, Ichizo Nishino, Shin Hisahara

Author information

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

Keywords: ATTRv amyloidosis, ATTR-FAP, transthyretin (TTR), asymmetric neuropathy

JOURNAL OPEN ACCESS

2023 Volume 62 Issue 15 Pages 2261-2266

DOI https://doi.org/10.2169/internalmedicine.0798-22

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Abstract

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.

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