Genetic characterization of primary lateral sclerosis.

Eva M J de BoerBalint S de VriesMaartje Pennings Erik-Jan Kamsteeg Jan Herman Veldink Leonard H Van Den Berg Michael A Van Es

Published in: Journal of neurology (2023)

In a cohort of 139 PLS patients, genetic analyses resulted in 31 variants (22%) of which 10 (7%) (likely) pathogenic associated with different diseases (predominantly ALS and HSP). Based on these results and the literature, we advise to consider genetic analyses in the diagnostic work-up for PLS.

Keyphrases

end stage renal disease
copy number
newly diagnosed
genome wide
ejection fraction
chronic kidney disease
peritoneal dialysis
heat shock protein
minimally invasive
oxidative stress
gene expression
heat shock
patient reported outcomes