Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. - Université Paris Cité Accéder directement au contenu
Article Dans Une Revue Annals of Neurology Année : 2009

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

Résumé

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.

Domaines

Neurosciences

Dates et versions

hal-00655300 , version 1 (27-12-2011)

Identifiants

Citer

Catherine Vaurs-Barrière, Marlène Deville, Catherine Sarret, Geneviève Giraud, Vincent Des Portes, et al.. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.. Annals of Neurology, 2009, 65 (1), pp.114-8. ⟨10.1002/ana.21579⟩. ⟨hal-00655300⟩
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