オオヤマ　ゲンコウ   OYAMA Genko   大山　彦光    所属   埼玉医科大学  医学部 脳神経内科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読なし
表題	Genotype-phenotype correlation of Parkinson's disease with PRKN variants.
掲載誌名	正式名：Neurobiology of aging
掲載区分	国外
巻・号・頁	114,117-128頁
著者・共著者	Hiroyo Yoshino,Yuanzhe Li,Kenya Nishioka,Kensuke Daida,Arisa Hayashida,Yuta Ishiguro,Daisuke Yamada,Nana Izawa,Katsunori Nishi,Noriko Nishikawa,Genko Oyama,Taku Hatano,Shinichiro Nakamura,Asako Yoritaka,Yumiko Motoi,Manabu Funayama,Nobutaka Hattori
発行年月	2022/01/06
概要	To investigate the prevalence and genotype-phenotype correlations of parkin RBR E3 ubiquitin protein ligase (PRKN) variants in Parkinson's disease (PD), we first included 2,527 patients with PD. Through the defined selection, we enrolled 2,322 patients, including 1,204 with familial and 1,118 with sporadic PD. We identified 242 patients harboring PRKN variants, which were thought to be susceptibility factors, comprising 137 patients with familial and 105 with sporadic PD; among the 26 identified variants, 13 were novel. We divided our cohort into 2 groups: heterozygote (hereafter called one-allele) and homozygote or compound heterozygote (hereafter called two-allele). The patients with two-allele were significantly younger at onset than those with one-allele. Six families harbored the complex forms of one- and two-allele in different individuals of the same family. The presence of two-allele reflected more frequent normal values of [123I] metaiodobenzylguanidine myocardial scintigraphy. The log-rank test revealed an exacerbation associated with two-allele over 15 years of the disease course. The patients with PRKN variants showed specific symptoms dependent on the number of mutated alleles.
DOI	10.1016/j.neurobiolaging.2021.12.014
PMID	35123805