Effect of familial clustering in the genetic screening of 235 French ALS families.

Philippe CorciaWilliam CamuCeline BrulardSylviane MarouillatPhilippe CouratierJean-Philippe CamdessanchéPascal CintasAnnie VerschuerenMarie-Helene SorianiClaude DesnuelleMarie-Céline FleuryNathalie GuyJulien CassereauFausto ViaderSophie Pittion-VouyovitchVeronique DanelIvan KolevGwendal Le MassonStephane BeltranFrancois SalachasEmilien BernardPierre-François PradatHélène Blasco Débora LanznasterRudolph HergesheimerFrederic LaumonnierChristian R AndresVincent MeiningerPatrick Vourc'h

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

Our results suggest that familial clustering, phenotypes and genotypes are interconnected in FALS, and thus it might be possible to target the genetic screening from the familial architecture and the phenotype of ALS cases.

Keyphrases

early onset
genome wide
single cell
amyotrophic lateral sclerosis
rna seq
copy number
dna methylation
gene expression