Pelizaeus–Merzbacher–Like disease presentation of MCT8 mutated male subjects
- 1 January 2009
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 65 (1), 114-118
- https://doi.org/10.1002/ana.21579
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;65:114–118Keywords
This publication has 16 references indexed in Scilit:
- MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expressionEuropean Journal of Human Genetics, 2008
- GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like diseaseNeurology, 2008
- A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental DelayPEDIATRICS, 2008
- Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporterEuropean Journal of Pediatrics, 2007
- Unexpected Peripheral Markers of Thyroid Function in a Patient with a Novel Mutation of the MCT8 Thyroid Hormone Transporter GeneHormone Research in Paediatrics, 2006
- Mechanisms of Disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8Nature Clinical Practice Endocrinology & Metabolism, 2006
- A Novel Mutation in the Monocarboxylate Transporter 8 Gene in a Boy with Putamen Lesions and Low Free T4 Levels in Cerebrospinal FluidThe Journal of Pediatrics, 2005
- Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) GeneAmerican Journal of Human Genetics, 2005
- A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter GeneAmerican Journal of Human Genetics, 2004
- Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutationsEuropean Journal of Human Genetics, 2000