J Clin Neurol.  2012 Jun;8(2):139-145.

Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication

Affiliations
  • 1Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea. bochoi@ewha.ac.kr
  • 2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
  • 3Department of Neurology, Keimyung University College of Medicine, Daegu, Korea.
  • 4Department of Neurology, Seoul National University College of Medicine, Seoul, Korea.
  • 5Department of Neurology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
  • 6Department of Neurology, Catholic University of Daegu School of Medicine, Daegu, Korea.
  • 7Department of Neurology, Ajou University College of Medicine, Suwon, Korea.
  • 8Department of Neurology, Hangang Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.
  • 9Department of Neurology, Sanggye Paik Hospital, Seoul, Korea.
  • 10Department of Neurology, Pusan National University College of Medicine, Busan, Korea.
  • 11Department of Neurology, Hanyang University College of Medicine, Seoul, Korea.
  • 12Department of Neurology, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.
  • 13Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 14Department of Neurology, Kyung Hee University College of Medicine, East-West Neo Medical Center, Seoul, Korea.
  • 15Department of Neurology, Dongguk University College of Medicine, Gyeongju, Korea.
  • 16Department of Neurology, Chungnam National University College of Medicine, Daejeon, Korea.
  • 17Department of Neurology, CHA University, Pocheon, Korea.
  • 18Department of Neurology, NHIC Ilsan Hospital, Goyang, Korea.
  • 19Department of Neurology, Jeju National University College of Medicine, Jeju, Korea.
  • 20Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, Korea.
  • 21Department of Neurology, Konkuk University College of Medicine, Seoul, Korea.
  • 22Department of Biological Science, Kongju National University, Gongju, Korea.

Abstract

BACKGROUND AND PURPOSE
Charcot-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 the motor 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.

Keyword

charcot-marie-tooth disease; CMT1A; compound muscle action potential; duplication; nerve conduction velocity; sensory nerve action potential

MeSH Terms

Action Potentials
Axons
Charcot-Marie-Tooth Disease
Cohort Studies
Humans
Muscles
Neural Conduction

Figure

  • Fig. 1 Scattergrams showing results of correlation analysis. The median (A) and ulnar (B) nerve compound muscle action potentials (CMAPs) were strongly correlated with the disease duration. Closed and open circles indicate male and female patients, respectively. The median (C) and ulnar (D) nerve CMAPs were not correlated with the age at onset.


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