ヤマモト　トシユキ   Yamamoto Toshiyuki   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読なし
表題	Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.
掲載誌名	正式名：Brain and Development
巻・号・頁	34(3),pp.230-233
著者・共著者	Keiko Shimojima, Akihisa Okumura, Jun Natsume, Kaori Aiba, Hirokazu Kurahashi, Tetsuo Kubota, Kenji Yokochi, Toshiyuki Yamamoto
発行年月	2012/03
概要	Many types of spinocerebellar ataxias (SCAs) manifest as progressive disorders with cerebellar involvement. SCA type 27 (SCA27) is a rare type of SCA caused by mutations in the fibroblast growth factor 14 gene (FGF14). FGF14 disruption caused by a de novo reciprocal chromosomal translocation between chromosomes 13 and 21 was identified in a patient with the phenotype of paroxysmal non-kinesigenic dyskinesia (PNKD). This indicated genetic heterogeneity of PNKD, since 60% of the patients with PNKD exhibit mutations in another gene responsible for PNKD, the myofibrillogenesis regulator 1 gene (MR-1). We hypothesized that the remaining 40% of patients with PNKD may have FGF14 mutations; therefore, the nucleotide sequences of MR-1 and FGF14 were analyzed in another six patients with PNKD, but no nucleotide alterations were observed in these genes for these patients. Further studies should be conducted on the phenotypic heterogeneity of FGF14 mutations and/or haploinsufficiency in SCA27 and PNKD.
DOI	10.1016