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

Title
Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication
Authors
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.Kim S.-B.Kim N.-H.Sohn E.H.Kim O.-J.Kim H.S.Cho J.H.Kang S.-Y.Park C.-I.Oh J.Shin J.H.Chung K.W.Choi B.-O.
Ewha Authors
최경규박기덕최병옥
SCOPUS Author ID
최경규scopus; 박기덕scopus
Issue Date
2012
Journal Title
Journal of Clinical Neurology (Korea)
ISSN
1738-6586JCR Link
Citation
vol. 8, no. 2, pp. 139 - 145
Indexed
SCIE; SCOPUS; KCI WOS scopus
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. © Korean Neurological Association.
DOI
10.3988/jcn.2012.8.2.139
Appears in Collections:
의과대학 > 의학과 > Journal papers
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