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. 2012 Oct 25;4(3):149–155. doi: 10.1159/000342132

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Copyright © 2012 by S. Karger AG, Basel

This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No-Derivative-Works License (http://creativecommons.org/licenses/by-nc-nd/3.0/). Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.

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Fig. 1 — Histological and genetic results in case 1. a A cross section of the left sural nerve with toluidine blue staining showed a decrease in the myelinated fiber density. Thinly myelinated fibers were observed (arrows). Scale bar = 100 μm. b Teased fiber preparation demonstrated the characteristic tomacula formation (arrow). Other thinly myelinated fibers were observed. c Genetic analysis with the FISH method showed only one PMP22 probe signal in 97% of the white blood cells. The deletion of one copy of the PMP22 genes, compared with the presence of two copies in a normal control, supported the diagnosis of HNPP. One existing copy of the PMP22 gene is indicated (arrow head).