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BioMed Research International
Volume 2017 (2017), Article ID 6481367, 6 pages
https://doi.org/10.1155/2017/6481367
Research Article

Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort

Department of Neurology, Peking University First Hospital, Beijing 100034, China

Correspondence should be addressed to Yun Yuan; moc.621@2002nuynauy

Received 5 March 2017; Revised 23 June 2017; Accepted 4 July 2017; Published 1 August 2017

Academic Editor: Mario U. Manto

Copyright © 2017 Rui Wu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 (PMP22) gene duplication is the most common form of hereditary polyneuropathy. Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this study. The clinical picture included a great variability of phenotype with mean onset age of years (1–55 years). Pathologically, we observed a severe reduction in myelinated fiber density showing three types of changes: pure onion bulb formation in 3 cases (12.5%), onion bulb formation with axonal sprouts in 10 cases (41.7%), and focally thickened myelin with onion bulb formation or/and axonal sprouts in 11 cases (45.8%). We observed no significant correlation between nerve fiber density and disease duration. There was no significant difference between the 3 pathological types in terms of clinical manifestations, nerve fiber density, and -ratio. Our study indicates that there is marked variability in the age of onset of CMT1A, as well as significant pathological changes without deterioration with the development of the disease. Focally thickened myelin is another common morphological feature of demyelination.