期刊
JOURNAL OF NEUROLOGY
卷 252, 期 6, 页码 663-666出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-005-0713-3
关键词
paroxysmal dyskinesia; monocarboxylate transporter; MCT8; thyroid hormone; X-linked mental retardation
资金
- NCRR NIH HHS [RR 00055] Funding Source: Medline
- NIDDK NIH HHS [DK 15070] Funding Source: Medline
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.
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