2023 年 40 巻 1 号 p. 17-22
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.
