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. 2023 Oct 18;13:17801. doi: 10.1038/s41598-023-45011-8

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Sural nerve biopsy findings in Patient 4. (A) A light microscopic image showing marked loss of myelinated fibers, without amyloidosis or vasculitis. (B) A lager image showing marked loss of both large and small myelinated fibers. (C) An electron microscopic image showing many collagen pockets (black arrow), reflecting unmyelinated fiber damage. (D) A Schwann cell had cytoplasmic dense materials (blue arrow). (E) Another Schwann cell had a cytoplasmic inclusion (yellow arrow). (F) The other Schwann cell had a cytoplasmic inclusion similar to the one shown in E (yellow arrow). (G) Membranous materials were seen between myelin sheaths (white arrow) or between a myelin sheath and an axon (white arrowhead). (H) Cells that constitute vessels had no abnormality without aggregation.