Transthyretin Variant Amyloidosis with a <i>TTR</i> A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy
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- Ikeda Kazuna
- Department of Neurology, Sapporo Medical University School of Medicine, Japan
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- Yamamoto Daisuke
- Department of Neurology, Sapporo Medical University School of Medicine, Japan Department of Neurology, Sunagawa City Medical Center, Japan
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- Usui Keiko
- Department of Systems Neuroscience, Sapporo Medical University School of Medicine, Japan
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- Takeuchi Hiroki
- Department of Neurology, National Hospital Organization Minami Kyoto Hospital, Japan
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- Oka Nobuyuki
- Kyoto Konoe Rehabilitation Hospital, Japan
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- Katoh Nagaaki
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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- Yazaki Masahide
- Institute for Biomedical Sciences, Shinshu University, Japan Clinical Laboratory Sciences Division, Shinshu University Graduate School of Medicine, Japan
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- Kametani Fuyuki
- Tokyo Metropolitan Institute of Medical Science, Japan
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- 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
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- Hisahara Shin
- Department of Neurology, Sapporo Medical University School of Medicine, Japan
Abstract
<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>
Journal
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- Internal Medicine
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Internal Medicine 62 (15), 2261-2266, 2023-08-01
The Japanese Society of Internal Medicine