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

By Catherine Vaurs-Barrière, Marlène Deville, Catherine Sarret, Geneviève Giraud, Vincent Des Portes, José-Maria Prats-Viñas, Giuseppe De Michele, Bernard Dan, Angela F Brady, Odile Boespflug-Tanguy and Renaud Touraine


International audiencePelizaeus-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

Topics: [ SCCO.NEUR ] Cognitive science/Neuroscience
Publisher: Wiley
Year: 2009
DOI identifier: 10.1002/ana.21579
OAI identifier: oai:HAL:hal-00655300v1
Provided by: Hal-Diderot
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