New paper out in PLOS Genetics! doi.org/10.1371/jour... Written with my dad (Prof. emeritus D de Vienne), we revisit genetic risk estimation for relatives of C9orf72 repeat expansion carriers. This variant is the most common genetic cause of ALS and FTD, two major neurodegenerative disorders. 1/3
Age-based risk estimates for C9orf72RE-related diseases: Theoretical developments and added value for genetic counseling
Author summary Amyotrophic lateral sclerosis and frontotemporal dementia are often linked to a mutation called C9orf72 repeat expansion. Relatives of mutation carriers are usually informed of a 50% (c...
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