Journal of Neurology

, 255:986

Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation

  • E. Gallardo
  • K. G. Claeys
  • E. Nelis
  • A. García
  • A. Canga
  • O. Combarros
  • V. Timmerman
  • P. De Jonghe
  • J. Berciano
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-008-0808-8

Cite this article as:
Gallardo, E., Claeys, K.G., Nelis, E. et al. J Neurol (2008) 255: 986. doi:10.1007/s00415-008-0808-8

Abstract

The purpose of the study was to prospectively assess magnetic resonance (MR) imaging findings of lower limb musculature in an axonal Charcot-Marie-Tooth disease (CMT2) pedigree due to mutation in the dynamin 2 gene (DNM2). The series comprises a proband patient aged 55 years and her two affected daughters aged 32 and 23. MR imaging study included T1- and fat suppressed T2-weighted spin-echo sequences. MR imaging study showed extensive fatty infiltration of all calf muscle compartments with relative preservation of the deep posterior one. Fatty muscle infiltration increased distally in 19 out of 66 (23 %) visualized calf muscles in the three patients, but this percentage increased to 64 % in the youngest and least severe patient. Muscle edema without contrast enhancement was present in 23 % of calf muscles. There was massive fatty atrophy of foot musculature. We conclude that MR imaging study accurately depicts lower limb muscle involvement in CMT2 caused by DNM2 mutation.

Key words

Charcot-Marie-Tooth diseaseaxonal degenerationdynamin 2magnetic resonance imagingfatty muscle atrophymuscle edema

Copyright information

© Springer 2008

Authors and Affiliations

  • E. Gallardo
    • 1
  • K. G. Claeys
    • 2
  • E. Nelis
    • 2
  • A. García
    • 1
  • A. Canga
    • 1
  • O. Combarros
    • 1
  • V. Timmerman
    • 2
  • P. De Jonghe
    • 2
  • J. Berciano
    • 1
  1. 1.Services of Radiology, Clinical Neurophysiology and NeurologyUniversity Hospital “Marqués de Valdecilla”, (CIBERNED and IFIMAV) and University of CantabriaSantanderSpain
  2. 2.Neurogenetics Group and Peripheral, Neuropathy Group, Dept. of Molecular Genetics, VIBLaboratory of Neurogenetics, Institute Born-Bunge and University of AntwerpAntwerpenBelgium