Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis

Bing Wen Soong, Kon Ping Lin, Yuh Cherng Guo, Chou Ching K. Lin, Pei Chien Tsai, Yi Chu Liao, Yi Chun Lu, Shuu Jiun Wang, Ching Piao Tsai*, Yi Chung Lee


研究成果: Article同行評審

41 引文 斯高帕斯(Scopus)


Identification of genetic mutations has been of burgeoning importance in amyotrophic lateral sclerosis (ALS) in recent years. The aim of this study was to determine the frequency and spectrum of mutations in major ALS-causing genes in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of the SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, and HNRNPA2B1 genes were carried out by direct sequencing in 161 unrelated patients with ALS, including 30 with familial ALS (FALS) and 131 with sporadic ALS (SALS). The CAG repeat size in ATXN2 and the GGGGCC repeat expansion in C9ORF72 of the patients were also investigated. Mutations were identified in 33 patients (20.5%, 33/161), including 22 with FALS and 11 with SALS. Mutations were identified most frequently in SOD1 (7.5%). Three mutations are novel, including SOD1 p.G10A, SOD1 p.D83N, and OPTN p.L494W. These findings broaden the spectrum of ALS-causing mutations and are indispensable for designing optimal strategies of mutational analysis and genetic counseling of ALS for patients of Chinese origin.

頁(從 - 到)2423.e1-2423.e6
期刊Neurobiology of Aging
出版狀態Published - 10月 2014


深入研究「Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis」主題。共同形成了獨特的指紋。