MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features

• Type of Material: Article
• Authors: Davide Tonduti, IRCCS Fondazione C. Mondino; Adeline Vanderver, Children’s National Medical Center; Angela Berardinelli, IRCCS Fondazione C. Mondino; Johanna Schmidt, Children’s National Medical Center; Christin Collins, Emory University; Francesca Novara, University of Pavia; Antonia Di Genni, IRCCS Fondazione C. Mondino; Alda Mita, IRCCS Fondazione C. Mondino; Fabio Triulzi, Children’s Hospital V. Buzzi-Istituti Clinici di Perfezionamento; Janice E. Brunstrom-Hernandez, Washington University School of Medicine; Orsetta Zuffardi, University of Pavia; Umberto Balottin, University of Pavia; Simona Orcesi, Mondino National Institute of Neurology Foundation
• Language: English
• Date: 2013-06-01
• Publisher: SAGE Publications (UK and US)
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2012 by SAGE Publications
• Final Published Version (URL): http://dx.doi.org/10.1177/0883073812450944
• Title of Journal or Parent Work: Journal of Child Neurology
• ISSN: 0883-0738
• Volume: 28
• Issue: 6
• Start Page: 795
• End Page: 800
• Keywords: Basal Ganglia Diseases; X-linked; Thyroid Function Tests; Humans; Aspartic Acid; Brain; leukodystrophy; Chromosomes, Human, X; Child, Preschool; DNA Mutational Analysis; Male; Magnetic Resonance Imaging; Monocarboxylic Acid Transporters; Choline; Mutation, Missense; Hereditary Central Nervous System Demyelinating Diseases; Sex Chromosome Aberrations; Inositol; Magnetic Resonance Spectroscopy; Codon, Nonsense; Neurologic Examination; thyroid; MCT8; Developmental Disabilities; Nerve Fibers, Myelinated; extrapyramidal; Follow-Up Studies; movement disorder; Infant; hypomyelination
• Research Categories: Health Sciences, Radiology; Biology, Genetics

Abstract

Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked disorder resulting from an impairment of the transcellular transportation of thyroid hormones. Within the central nervous system thyroid hormone transport is normally mediated by MCT8. Patients are described as affected by a static or slowly progressive clinical picture which consists of variable degrees of mental retardation, hypotonia, spasticity, ataxia and involuntary movements, occasionally paroxysmal. The authors describe the clinical and neuroradiological picture of 3 males patients with marked delayed brain myelination and in which the clinical picture was dominated by early onset nonparoxysmal extrapyramidal symptoms. In one subject a novel mutation is described.