| A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. | |
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MedLine Citation:
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PMID: 21982616 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. Although choreic movement in BHC/Brain-Thyroid-Lung syndrome is recognized as non-progressive, the proband showed re-exacerbation of choreic movement at puberty. The dopamine agonist, ropinirole hydrochloride, reduced her choreic movements, suggesting that levodopa and/or dopamine agonists may compensate for underdeveloped dopaminergic pathways in this disorder. |
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Authors:
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Katsuya Nakamura; Yoshiki Sekijima; Kiyoshiro Nagamatsu; Kunihiro Yoshida; Shu-Ichi Ikeda |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-5 |
Journal Detail:
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Title: Journal of the neurological sciences Volume: - ISSN: 1878-5883 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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