title: Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
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.
authors.affiliation: Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Vaurs-Barrière
authors.forename: Marlène
authors.initials: M
authors.lastname: Deville
authors.forename: Catherine
authors.initials: C
authors.lastname: Sarret
authors.forename: Geneviève
authors.initials: G
authors.lastname: Giraud
authors.forename: Vincent
authors.initials: V
authors.lastname: Des Portes
authors.forename: José-Maria
authors.initials: JM
authors.lastname: Prats-Viñas
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
authors.forename: Bernard
authors.initials: B
authors.lastname: Dan
authors.forename: Angela F
authors.initials: AF
authors.lastname: Brady
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: Renaud
authors.initials: R
authors.lastname: Touraine
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005192:Family Health; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D027501:Monocarboxylic Acid Transporters / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009186:Myelin Sheath / Q000473:pathology; D020371:Pelizaeus-Merzbacher Disease / Q000097:blood / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D027981:Symporters; D013974:Thyroxine / Q000097:blood; D014284:Triiodothyronine / Q000097:blood
chemical_list: D027501:Monocarboxylic Acid Transporters; C090735:SLC16A2 protein, human; D027981:Symporters; D014284:Triiodothyronine; D013974:Thyroxine