Clinical and genetic features of amyotrophic lateral sclerosis patients in southern China.

BACKGROUND: Amyotrophic lateral sclerosis (ALS)-related genes and mutations have been increasingly discovered recently, and an improved understanding of genotype-phenotype relationships may help predict the disease course and refine genetic diagnosis. METHODS: We collected clinical data and blood samples from 268 patients and used next generation sequencing to comprehensively assay genetic variations in a panel of known ALS genes from 2015 to 2019. RESULTS: Among these patients, the mean age of onset was 52.30 +/- 10.42 years with a mean diagnosis delay of 15.90 +/- 11.88 months. Patients with SOD1, TARDBP, and FUS variants were more likely to suffer from familial ALS. Additionally, carriers of FUS variants displayed the earliest onset, followed by those with SOD1 variants. Patients with NEFH variants showed a closer link to pesticide exposure. Patients with SETX variants were prone to bulbar onset with moderate anxiety problems. No genotype-phenotype relations were found in SPG11 and ERBB4 mutants. CONCLUSION: Our findings uncovered some genotype-phenotype relationships and may help predict the disease course of ALS patients in southern China.