EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

• Published in: Parkinsonism & related disorders Vol. 20; no. 6; pp. 659 - 661
• Main Authors: Nishioka, Kenya, Funayama, Manabu, Vilariño-Güell, Carles, Ogaki, Kotaro, Li, Yuanzhe, Sasaki, Ryogen, Kokubo, Yasumasa, Kuzuhara, Shigeki, Kachergus, Jennifer M., Cobb, Stephanie A., Takahashi, Hirohide, Mizuno, Yoshikuni, Farrer, Matthew J., Ross, Owen A., Hattori, Nobutaka
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.06.2014
• Subjects: Adult; Aged; Asian Continental Ancestry Group - genetics; DNA Mutational Analysis; EIF4G1; Eukaryotic Initiation Factor-4G - genetics; Exons - genetics; Female; Genetic Predisposition to Disease - genetics; Genetics; Humans; Male; Middle Aged; Mutation; Neurology; Parkinson Disease - genetics; Parkinson's disease; Point Mutation - genetics; Polyglutamic Acid - genetics; Genetics; Parkinson's disease; Mutation; EIF4G1

Pathogenic mutations in the EIF4G1 gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of EIF4G1 mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form...