MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
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.
Child Neurology and Psychiatry Unit, IRCCS C. Mondino National Institute of Neurology Foundation, Via Mondino 2, Pavia, Italy. davidetondu@hotmail.com
Davide
D
Tonduti
Adeline
A
Vanderver
Angela
A
Berardinelli
Johanna L
JL
Schmidt
Christin D
CD
Collins
Francesca
F
Novara
Antonia Di
AD
Genni
Alda
A
Mita
Fabio
F
Triulzi
Janice E
JE
Brunstrom-Hernandez
Orsetta
O
Zuffardi
Umberto
U
Balottin
Simona
S
Orcesi
D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001480:Basal Ganglia Diseases / Q000175:diagnosis* / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D041321:Chromosomes, Human, X / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D005500:Follow-Up Studies; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007294:Inositol / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D027501:Monocarboxylic Acid Transporters / Q000172:deficiency* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D009460:Neurologic Examination; D012729:Sex Chromosome Aberrations; D027981:Symporters; D013960:Thyroid Function Tests
D018389:Codon, Nonsense; D027501:Monocarboxylic Acid Transporters; C090735:SLC16A2 protein, human; D027981:Symporters; D001224:Aspartic Acid; D007294:Inositol; C000179:N-acetylaspartate; D002794:Choline