オオタ　カズミチ   OTA Kazumichi   大田　一路    所属   埼玉医科大学  医学部 脳神経内科    職種   助教
論文種別	学術雑誌(症例報告)
言語種別	英語
査読の有無	査読あり
表題	A Japanese family with P102L Gerstmann–Sträussler–Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: a case report
掲載誌名	正式名：eNeurologicalSci ISSNコード：24056502
掲載区分	国外
巻・号・頁	0頁
著者・共著者	◎Kazumichi OTA, M.D., Yoshihiko NAKAZATO, M.D., Ryu YOKOYAMA, M.D., Hitoshi KAWASAKI, M.D., Naotoshi TAMURA, M.D., Akira OHTAKE, M.D., Megumi SAITO Tsuruoka., Toshimasa YAMAMOTO, M.D.
発行年月	2021
概要	Gerstmann–Sträussler–Scheinker's disease (GSS) is an exceedingly rare inherited　prion disease. A point mutation at codon 102 of the prion protein gene, resulting in the　substitution of proline to leucine (P102L), is the most common causative mutation in　Japan. P102L Gerstmann–Sträussler–Scheinker's disease (GSS102) is characterized　by middle-aged onset and slow progression of cerebellar ataxia with dementia, with autosomal dominant inheritance and high penetrance. We initially suspected that the first patient presented herewith had a variant prion disease because he had rapidly developed juvenile dementia, an abnormal signal in the thalamus called the hockey stick sign on MRI, and no family history at disease onset. We report a total of three cases from the same Japanese family of P102L GSS102 who had different clinical signs and courses.
DOI	10.1016/j.ensci.2021.100380
researchmap用URL	https://www.sciencedirect.com/science/article/pii/S2405650221000733