Document Detail


MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
MedLine Citation:
PMID:  22805248     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-07-17
Journal Detail:
Title:  Journal of child neurology     Volume:  28     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-05-16     Completed Date:  2013-10-23     Revised Date:  2014-09-07    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  795-800     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aspartic Acid / analogs & derivatives,  metabolism
Basal Ganglia Diseases / diagnosis*,  genetics*
Brain / pathology*
Child, Preschool
Choline / metabolism
Chromosomes, Human, X / genetics*
Codon, Nonsense / genetics
DNA Mutational Analysis*
Developmental Disabilities / diagnosis*,  genetics*
Follow-Up Studies
Hereditary Central Nervous System Demyelinating Diseases / diagnosis*,  genetics*
Humans
Infant
Inositol / metabolism
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
Monocarboxylic Acid Transporters / deficiency*,  genetics*
Mutation, Missense / genetics
Nerve Fibers, Myelinated / pathology*
Neurologic Examination
Sex Chromosome Aberrations*
Thyroid Function Tests
Grant Support
ID/Acronym/Agency:
K08 NS060695/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Codon, Nonsense; 0/Monocarboxylic Acid Transporters; 0/SLC16A2 protein, human; 30KYC7MIAI/Aspartic Acid; 4L6452S749/Inositol; 997-55-7/N-acetylaspartate; N91BDP6H0X/Choline
Comments/Corrections

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