Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication

Young Hwa Kim, Hwa Kyung Chung, Kee Duk Park, Kyoung Gyu Choi, Seung Min Kim, Il Nam Sunwoo, Young Chul Choi, Jeong Geun Lim, Kwang Woo Lee, Kwang Kuk Kim, Dong Kuk Lee, In Soo Joo, Ki Han Kwon, Seok Beom Gwon, Jae Hyeon Park, Dae Seong Kim, Seung Hyun Kim, Woo Kyung Kim, Bum Chun Suh, Sang Beom KimNam Hee Kim, Eun Hee Sohn, Ok Joon Kim, Hyun Sook Kim, Jung Hee Cho, Sa Yoon Kang, Chan Ik Park, Jiyoung Oh, Jong Hyu Shin, Ki Wha Chung, Byung Ok Choi

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Abstract

Background and PurposeCharcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. Methods We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. Results Clinical motor disabilities were significantly correlated with the CMAPs but not theremotor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. Conclusions In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.

Original languageEnglish
Pages (from-to)139-145
Number of pages7
JournalJournal of Clinical Neurology (Korea)
Volume8
Issue number2
DOIs
Publication statusPublished - 2012 Jun

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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    Kim, Y. H., Chung, H. K., Park, K. D., Choi, K. G., Kim, S. M., Sunwoo, I. N., Choi, Y. C., Lim, J. G., Lee, K. W., Kim, K. K., Lee, D. K., Joo, I. S., Kwon, K. H., Gwon, S. B., Park, J. H., Kim, D. S., Kim, S. H., Kim, W. K., Suh, B. C., ... Choi, B. O. (2012). Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication. Journal of Clinical Neurology (Korea), 8(2), 139-145. https://doi.org/10.3988/jcn.2012.8.2.139