運動失調症患者のレジストリ Japan Consortium of Ataxias (J–CAT)

DOI

書誌事項

タイトル別名
  • An registry of ataxias – Japan Consortium of Ataxias (J–CAT) –

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説明

<p>Clinical research based on patient registries has recently been a global trend. J–CAT (Japan Consortium of Ataxias) is the only registry in Japan characterized by Web–based patient–driven registration with informed consent. Detailed clinical information and clinical resources including genomic DNA, plasma and B–lymphoblast cell line have been accumulated in J–CAT. Mutational screening for major disease types has been conducted in all the registrants. On September 2022, 2365 registrants, 1949 genomic DNA, 515 plasma samples, and 334 B–lymphoblast cell lines have been obtained. Ongoing projects based on J–CAT include elucidation of molecular epidemiology, establishment of disease–specific prospective natural history, delineation of idiopathic cerebellar ataxia (IDCA) and support for differential diagnosis of autoimmune cerebellar ataxia. J–CAT plays an indispensable role in clinical researhes for the development of cures for ataxias.</p>

収録刊行物

  • 神経治療学

    神経治療学 40 (1), 17-22, 2023

    日本神経治療学会

キーワード

詳細情報 詳細情報について

  • CRID
    1390295823373720448
  • DOI
    10.15082/jsnt.40.1_17
  • ISSN
    21897824
    09168443
  • 本文言語コード
    ja
  • データソース種別
    • JaLC
  • 抄録ライセンスフラグ
    使用不可

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