Homozygote of spinocerebellar Ataxia type 3 correlating with severe phenotype based on analyses of clinical features

Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCAs worldwide. SCA3 homozygote is defined as expanded CAG repeats in both alleles that might exhibit severe phenotype due to gene dosage effect. However, a study on the systematic comparison of clinical phenotypes between homozygotes and heterozygotes to indicate these verity of phenotypes of homozygotes is still lacking.

Source: Journal of the Neurological Sciences - April 18, 2018 Category: Neurology Authors: Xian-Jin Shang, Hao-Ling Xu, Jin-Shan Yang, Ping-Ping Chen, Min-Ting Lin, Mei-Zhen Qian, Hui-Xia Lin, Xiao-Ping Chen, Yu-Chao Chen, Bin Jiang, Yi-Jun Chen, Wan-Jin Chen, Ning Wang, Zhi-Ming Zhou, Shi-Rui Gan Source Type: research