Mutation spectrum of amyotrophic lateral sclerosis in Central South China

Neurobiol Aging. 2021 Jun 19:S0197-4580(21)00202-5. doi: 10.1016/j.neurobiolaging.2021.06.008. Online ahead of print.ABSTRACTTo analyze the mutational spectrum of known ALS causative genes in China ALS patients. We comprehensively analyzed 51 ALS causative genes by combining different sequencing technologies in 753 unrelated ALS patients from Central South China. The mean age at onset (AAO) was 53.7±11.4 years. The AAO was earlier in the autosomal dominant (AD) ALS patients than in the sporadic ALS (sALS) patients. Bulbar onset was more frequent in females than in males. SOD1 was the most frequently mutated gene in the AD-ALS and the sALS patients, followed by the ATXN2 and FUS genes in the AD-ALS patients and the NEK1 and CACNA1H genes in the sALS patients. Patients with RDVs in the SOD1 or FUS genes had an earlier AAO than the mean AAO of all the patients, while the patients with RDVs in the NEK1 gene showed later onset. SOD1 gene was the most commonly mutated gene in ALS patients in China, followed by ATXN2 and NEK1. The phenotype might be determined synergistically by sex and genetic variants.PMID:34275688 | DOI:10.1016/j.neurobiolaging.2021.06.008

Source: Neurobiology of Aging - July 19, 2021 Category: Geriatrics Authors: Zhen Liu Yanchun Yuan Mengli Wang Jie Ni Wanzhen Li Ling Huang Yiting Hu Pan Liu Xiaorong Hou Xuan Hou Juan Du Ling Weng Ruxu Zhang Qi Niu Jianguang Tang Hong Jiang Lu Shen Beisha Tang Junling Wang Source Type: research