Cheng-hui Ye, Xi-lin Lu, Min-ying Zheng, Jun Zhen, Zhi-Ping Li, Lei Shi, Zhi-yong Liu, Lu-yang Feng, Zhong Pei, Xiao-li Yao
Mutations in the TARDBP gene, which encodes the Tar DNA binding protein, have been shown to causes of both familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS). Recently, several novel TARDBP exon 6 mutants have been reported in patients with ALS in Europe and America but not in Asia. To further examine the spectrum and frequency of TARDBP exon 6 mutations, we investigated their frequency in ethnic Chinese patients with sporadic ALS. TARDBP exon 6 was screened by direct sequencing in 207 non-SOD1 SALS patients and 230 unrelated healthy controls but no mutations were identified...
2013: PloS One