2 documents found, page 1 of 1
Is the high frequency of machado-joseph disease in China due to new mutational ...
Li, T; Martins, S; Peng, Y; Wang, P; Hou, X; Chen, Z; Wang, C; Tang, Z; Qiu, R; Chen, C; Hu, Z; Xia, K; Tang, B; Sequeiros, J; Jiang, HMachado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1-5/100,000. To this date, two major ancestral lineages have been found throughout the world. In China, the relative frequency of MJD among the SCAs reaches as high as 63%, however, little is known about its mutational origin in this country. We analyze...
Analysis of (CAG) n Expansion in ATXN1, ATXN2 and ATXN3 in Chinese Patients Wit...
Zhou, X; Wang, C; Ding, D; Chen, Z; Peng, Y; Peng, H; Hou, X; Wang, P; Hou, X; Ye, W; Li, T; Yang, H; Qiu, R; Xia, K; Sequeiros, J; Tang, B; Jiang, HMultiple system atrophy (MSA) is a complex and multifactorial neurodegenerative disease, and its pathogenesis remains uncertain. Patients with MSA or spinocerebellar ataxia (SCA) show overlapping clinical phenotypes. Previous studies have reported that intermediate or long CAG expansions in SCA genes have been associated with other neurodegenerative disease. In this study, we screened for the number of CAG repe...