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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.

Linked References

  1. B. Sun, Z.-H. Chen, L. Ling et al., “Mutation analysis of gap junction protein beta 1 and genotype-phenotype correlation in X-linked charcot-marie-tooth disease in Chinese patients,” Chinese Medical Journal, vol. 129, no. 9, pp. 1011–1016, 2016. View at Publisher · View at Google Scholar · View at Scopus
  2. M. M. Watila and S. A. Balarabe, “Molecular and clinical features of inherited neuropathies due to PMP22 duplication,” Journal of the Neurological Sciences, vol. 355, no. 1-2, pp. 18–24, 2015. View at Publisher · View at Google Scholar · View at Scopus
  3. S. M. Kim, J. Lee, B. R. Yoon, Y. J. Kim, B.-O. Choi, and K. W. Chung, “Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication,” Journal of Human Genetics, vol. 60, no. 2, pp. 103–106, 2015. View at Publisher · View at Google Scholar · View at Scopus
  4. M. C. McGrath, “Charcot-Marie-Tooth 1A: a narrative review with clinical and anatomical perspectives,” Clinical Anatomy, vol. 29, no. 5, pp. 547–554, 2016. View at Publisher · View at Google Scholar · View at Scopus
  5. J. Baets, T. Deconinck, E. De Vriendt et al., “Genetic spectrum of hereditary neuropathies with onset in the first year of life,” Brain, vol. 134, no. 9, pp. 2664–2676, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. A. Jani-Acsadi, S. Ounpuu, K. Pierz, and G. Acsadi, “Pediatric Charcot-Marie-Tooth Disease,” Pediatric Clinics of North America, vol. 62, no. 3, pp. 767–786, 2015. View at Publisher · View at Google Scholar · View at Scopus
  7. L.-W. Huang, K.-P. Lin, M.-H. Chang et al., “Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan,” Journal of the Chinese Medical Association, vol. 75, no. 5, pp. 197–202, 2012. View at Publisher · View at Google Scholar · View at Scopus
  8. F. Manganelli, C. Pisciotta, M. M. Reilly et al., “Nerve conduction velocity in CMT1A: what else can we tell?” European Journal of Neurology, vol. 23, no. 10, pp. 1566–1571, 2016. View at Publisher · View at Google Scholar · View at Scopus
  9. E. M. Yiu, J. Burns, M. M. Ryan, and R. A. Ouvrier, “Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A,” Journal of the Peripheral Nervous System, vol. 13, no. 3, pp. 236–241, 2008. View at Publisher · View at Google Scholar · View at Scopus
  10. B. Gess, A. Jeibmann, A. Schirmacher, I. Kleffner, M. Schilling, and P. Young, “Report of a novel mutation in the PMP22 gene causing an axonal neuropathy,” Muscle and Nerve, vol. 43, no. 4, pp. 605–610, 2011. View at Publisher · View at Google Scholar · View at Scopus
  11. N. Oka, “Pathology of Charcot-Marie-Tooth disease,” Brain and Nerve, vol. 68, no. 1, pp. 21–29, 2016. View at Google Scholar · View at Scopus
  12. N. Hattori, M. Yamamoto, T. Yoshihara et al., “Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients,” Brain, vol. 126, no. 1, pp. 134–151, 2003. View at Publisher · View at Google Scholar · View at Scopus
  13. S. Mathis, P. Corcia, M. Tazir et al., “Peripheral Myelin Protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease,” Neuromuscular Disorders, vol. 24, no. 6, pp. 524–528, 2014. View at Publisher · View at Google Scholar · View at Scopus
  14. R. Wang, J. He, J.-J. Li et al., “Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease,” Clinica Chimica Acta, vol. 451, pp. 263–270, 2015. View at Publisher · View at Google Scholar · View at Scopus
  15. Y. H. Kim, H. K. Chung, K. D. Park et al., “Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication,” Journal of Clinical Neurology, vol. 8, no. 2, pp. 139–145, 2012. View at Publisher · View at Google Scholar · View at Scopus
  16. P. K. Thomas, “Overview of Charcot-Marie-Tooth disease type 1A,” Annals of the New York Academy of Sciences, vol. 883, pp. 1–5, 1999. View at Publisher · View at Google Scholar · View at Scopus
  17. J. Kinter, T. Lazzati, D. Schmid et al., “An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease,” Neurobiology of Disease, vol. 49, no. 1, pp. 221–231, 2013. View at Publisher · View at Google Scholar · View at Scopus
  18. J. Catita, M. López-Luppo, D. Ramos et al., “Imaging of cellular aging in human retinal blood vessels,” Experimental Eye Research, vol. 135, pp. 14–25, 2015. View at Publisher · View at Google Scholar · View at Scopus
  19. G. M. Fabrizi, A. Simonati, M. Morbin et al., “Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases,” Muscle and Nerve, vol. 21, no. 7, pp. 869–877, 1998. View at Publisher · View at Google Scholar · View at Scopus