Document Detail


MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features.
MedLine Citation:
PMID:  22805248     Owner:  NLM     Status:  Publisher    
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 nonparoxismal 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
Related Documents :
21501078 - Morphological changes of trabeculectomy specimens in different kinds of uveitic glaucoma.
20674828 - Relationship between fractional exhaled nitric oxide and nasal nitric oxide in airways ...
16615418 - Brain perfusion abnormalities in chronic obstructive pulmonary disease: comparison with...
10839848 - Usefulness of the modified 0-10 borg scale in assessing the degree of dyspnea in patien...
9062638 - Soluble cd30 in pediatric patients with atopic dermatitis.
21724688 - Comparative analysis of tuberculous and brucellar spondylodiscitis.
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-17
Journal Detail:
Title:  Journal of child neurology     Volume:  -     ISSN:  1708-8283     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Fatigue and Depression in Children With Demyelinating Disorders.
Next Document:  Neurodevelopmental Abnormalities in Children With PHACE Syndrome.