Catherine Vaurs-Barrie`re, PhD,Marle`ne Deville, BS, Catherine Sarret, MD, Genevie`ve Giraud, BS, Vincent Des Portes, MD, PhD, Jose´-Maria Prats-Vin˜as, MD, PhD, Giuseppe De Michele, MD, Bernard Dan, MD, PhD, Angela F. Brady, MD,

Odile Boespflug-Tanguy, MD, PhD, and Renaud Touraine, MD, PhD3

Abstract: 

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. Ann Neurol 2009;65:114–118