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	査読あり
表題	High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
掲載誌名	正式名：Neurobiology of aging
掲載区分	国外
巻・号・頁	36(5),2004.e9-2004.e15頁
著者・共著者	Kenya Nishioka,Genko Oyama,Hiroyo Yoshino,Yuanzhe Li,Takashi Matsushima,Chisen Takeuchi,Yoko Mochizuki,Madoka Mori-Yoshimura,Miho Murata,Chikara Yamasita,Norimichi Nakamura,Yohei Konishi,Kazuki Ohi,Keiji Ichikawa,Tatsuhiro Terada,Tomokazu Obi,Manabu Funayama,Shinji Saiki,Nobutaka Hattori
発行年月	2015/05
概要	Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous disorder, characterized by the accumulation of iron in regions such as the basal ganglia. We enrolled 28 patients with childhood intellectual disability and young-onset parkinsonism (≤40 years at onset) and 4 patients with infantile neuroaxonal dystrophy. All had been clinically diagnosed, and the prevalence of genetic mutations linked to NBIA (PANK2 [exons 1-7], PLA2G6 [exons 2-17], C19orf12 [exons 1-3], WDR45 [exons 2-11], COASY [exons 1-9], FA2H [exons 1-7], and RAB39B [exons 1, 2]) was evaluated. We detected 7 female patients (25.0%, 7 of 28) with de novo heterozygote WDR45 mutations, which are known to be pathogenic for beta-propeller protein-associated neurodegeneration. All 7 patients had common clinical features. Pathogenic mutations in other NBIA genes were not found. We also screened 98 patients with early-onset parkinsonism without intellectual disability and 110 normal controls of Japanese origin for WDR45 mutations. None had WDR45 mutations. Our data suggest a high frequency of beta-propeller protein-associated neurodegeneration mutations in the Japanese population.
DOI	10.1016/j.neurobiolaging.2015.01.020
PMID	25744623