Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

Ann Neurol. 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579.


Pelizaeus-Merzbacher Disease is an X-linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53 families affected by hypomyelinating leukodystrophies of unknown aetiology. The 12 MCT8 mutated patients express initially a Pelizaeus-Merzbacher-Like disease phenotype with a latter unusual improvement of magnetic resonance imaging white matter signal despite absence of clinical progression. This observation underlines the interest of determining both free T3 and free T4 serum concentrations to screen for MCT8 mutations in young patients (<3 y) with a severe Pelizaeus-Merzbacher-Like disease presentation or older severe mentally retarded male patients with "hypomyelinated" regions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / pathology
  • Child
  • DNA Mutational Analysis
  • Disease Progression
  • Exons / genetics
  • Family Health
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Monocarboxylic Acid Transporters / genetics*
  • Mutation / genetics*
  • Myelin Sheath / pathology
  • Pelizaeus-Merzbacher Disease / blood
  • Pelizaeus-Merzbacher Disease / genetics*
  • Pelizaeus-Merzbacher Disease / pathology
  • Pelizaeus-Merzbacher Disease / physiopathology
  • Thyroxine / blood
  • Triiodothyronine / blood


  • Monocarboxylic Acid Transporters
  • SLC16A2 protein, human
  • Triiodothyronine
  • Thyroxine