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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. (C) 2011 Elsevier B.V. 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A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea
http://hdl.handle.net/10091/16872
http://hdl.handle.net/10091/168722a4086bd-5b0c-4bd6-b6bd-7ff228f37577
名前 / ファイル | ライセンス | アクション |
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A_novel_nonsense_mutation_TITF-1_gene_Japanese_family.pdf (222.7 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2013-04-01 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea | |||||
言語 | ||||||
言語 | eng | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1016/j.jns.2011.09.013 | |||||
関連名称 | 10.1016/j.jns.2011.09.013 | |||||
キーワード | ||||||
主題 | Benign hereditary chorea (BHC), Brain-Thyroid-Lung syndrome, Thyroid transcription factor-1 (TITF-1), Chorea, Hypothyroidism, Nkx2.1 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | journal article | |||||
著者 |
Nakamura, Katsuya
× Nakamura, Katsuya× Sekijima, Yoshiki× Nagamatsu, Kiyoshiro× Yoshida, Kunihiro× Ikeda, Shu-ichi |
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信州大学研究者総覧へのリンク | ||||||
氏名 | Sekijima, Yoshiki | |||||
URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html | |||||
信州大学研究者総覧へのリンク | ||||||
氏名 | Yoshida, Kunihiro | |||||
URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html | |||||
出版者 | ||||||
出版者 | ELSEVIER SCIENCE BV | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | JOURNAL OF THE NEUROLOGICAL SCIENCES. 313(1-2):189-192 (2012) | |||||
書誌情報 |
JOURNAL OF THE NEUROLOGICAL SCIENCES 巻 313, 号 1-2, p. 189-192, 発行日 2012-02-15 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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. | |||||
資源タイプ(コンテンツの種類) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
ISSN | ||||||
収録物識別子タイプ | PISSN | |||||
収録物識別子 | 0022-510X | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00703265 | |||||
PubMed | ||||||
識別子タイプ | PMID | |||||
関連識別子 | https://pubmed.ncbi.nlm.nih.gov/21982616 | |||||
関連名称 | 21982616 | |||||
権利 | ||||||
権利情報 | Copyright© 2011 Elsevier B.V. | |||||
出版タイプ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
WoS | ||||||
表示名 | Web of Science | |||||
URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000299978800035 |