X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
We previously reported two unrelated boys aged 3 and 8 years with mutations in the thyroid hormone transporter gene MCT8 resulting in severe global retardation and an uncommon pattern of thyroid hormone abnormalities. We now further describe an unusual neurological phenotype associated with these mutations, namely paroxysmal kinesigenic dyskinesias (PKD), provoked by certain stimuli including changing of their clothes or diapers. It is not clear how the MCT8 defect causes PKDs. PKDs have been previously noted in patients with thyroid abnormalities. This novel X-linked condition widens the spectrum of secondary PKDs.
Brockmann
Knut
K
Dept. of Paediatrics and Neuropaediatrics, Children's Hospital, Robert-Koch-Str. 40, 37075 Göttingen, Germany. kbrock@med.uni-goettingen.de
Dumitrescu
Alexandra M
AM
Best
Thomas T
TT
Hanefeld
Folker
F
Refetoff
Samuel
S
D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D027501:Monocarboxylic Acid Transporters / Q000235:genetics*; D009154:Mutation; D027981:Symporters; D013963:Thyroid Hormones / Q000378:metabolism
D027501:Monocarboxylic Acid Transporters; C090735:SLC16A2 protein, human; D027981:Symporters; D013963:Thyroid Hormones