MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna L. Schmidt, Christin D. Collins, Francesca Novara, Antonia Di Genni, Alda Mita, Fabio Triulzi, Janice E. Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, Simona Orcesi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)795-800
Number of pages6
JournalJournal of Child Neurology
Issue number6
Publication statusPublished - Jun 2013

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health


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