Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.

François MuratetElisa TeyssouAude ChiotSéverine BoilléeChristian S LobsigerDelphine BohlBeata GyorgyJustine GueganYannick MarieMaria Del Mar AmadorFrancois SalachasVincent MeiningerEmilien BernardJean-Christophe AntoineJean-Philippe Camdessanché William CamuCécile CazeneuveAnne-Laure Fauret-AmsellemEric LeguernKevin MouzatClaire GuissartSerge LumbrosoPhilippe CorciaPatrick Vourc'hAude-Marie GrapperonShahram AttarianAnnie VerschuerenDanielle Seilhean Stéphanie Millecamps

Published in: Journal of neurology, neurosurgery, and psychiatry (2021)

Our results highlighted nearsplice/intronic mutations in SOD1 are responsible for a significant portion of French fALS and suggested the systematic analysis of the SOD1 mRNA sequence could become the method of choice for SOD1 screening, not to miss these specific cases.

Keyphrases

amyotrophic lateral sclerosis
gene therapy
genome wide
dna methylation
copy number
binding protein
decision making