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Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China
- Source :
- European Journal of Neurology. 27:1017-1022
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- Background and purpose Amyotrophic lateral sclerosis (ALS)-related genes and mutations have been increasingly discovered recently and an improved understanding of genotype-phenotype relationships may help to 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 to predict the disease course of patients with ALS in southern China.
- Subjects :
- Adult
Oncology
China
medicine.medical_specialty
SOD1
TARDBP
03 medical and health sciences
0302 clinical medicine
Internal medicine
Genotype
Genetic variation
medicine
Humans
030212 general & internal medicine
Amyotrophic lateral sclerosis
ERBB4
business.industry
Amyotrophic Lateral Sclerosis
DNA Helicases
Proteins
Middle Aged
medicine.disease
Multifunctional Enzymes
Phenotype
DNA-Binding Proteins
Neurology
Southern china
Mutation
RNA-Binding Protein FUS
Neurology (clinical)
business
RNA Helicases
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14681331 and 13515101
- Volume :
- 27
- Database :
- OpenAIRE
- Journal :
- European Journal of Neurology
- Accession number :
- edsair.doi.dedup.....728eb611e298c8212b06d171648e5740