Systematic evaluation of genetic mutations in ALS: a population-based study.

Maurizio Grassano Andrea CalvoCristina MogliaLuca SbaizMaura BrunettiMarco BarberisFederico Casale Umberto ManeraRosario VastaAntonio CanosaSandra D'AlfonsoLucia CorradoLetizia MazziniClifton DalgardRamita KarraRuth ChiaBryan TraynorAdriano Chiò

Published in: Journal of neurology, neurosurgery, and psychiatry (2022)

Our results suggest that, because of its high diagnostic yield and increasingly competitive costs, along with the possibility of retrospectively reassessing newly described genes, WGS should be considered as standard genetic testing for all ALS patients. Additionally, our results provide a detailed picture of the genetic basis of ALS in the general population.

Keyphrases

genome wide
amyotrophic lateral sclerosis
end stage renal disease
ejection fraction
prognostic factors
peritoneal dialysis
dna methylation
gene expression
patient reported outcomes
bioinformatics analysis