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 nonparoxismal extrapyramidal symptoms. In one subject a novel mutation is described. © The Author(s) 2012.

MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features / D. Tonduti, A. Vanderver, A. Berardinelli, J.L. Schmidt, C.D. Collins, F. Novara, A.D. Genni, A. Mita, F. Triulzi, J.E. Brunstrom-Hernandez, O. Zuffardi, U. Balottin, S. Orcesi. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - 28:6(2013 Jun), pp. 792-797. [10.1177/0883073812450944]

MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features

D. Tonduti
;
F. Triulzi;
2013

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 nonparoxismal extrapyramidal symptoms. In one subject a novel mutation is described. © The Author(s) 2012.
extrapyramidal; hypomyelination; leukodystrophy; MCT8; movement disorder; thyroid; X-linked; Aspartic Acid; Basal Ganglia Diseases; Brain; Child, Preschool; Choline; Chromosomes, Human, X; Codon, Nonsense; Developmental Disabilities; Follow-Up Studies; Hereditary Central Nervous System Demyelinating Diseases; Humans; Infant; Inositol; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Monocarboxylic Acid Transporters; Mutation, Missense; Nerve Fibers, Myelinated; Neurologic Examination; Symporters; Thyroid Function Tests; DNA Mutational Analysis; Sex Chromosome Aberrations
Settore MED/37 - Neuroradiologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/821564
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