Article
Sex-Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?
Annals of neurology - 1 Jun 2026
Grassano Maurizio, Palumbo Francesca, Mora Gabriele, Gallone Salvatore, De Marco Giovanni, Merulla Ilaria, Paolantonio Claudia, Maccabeo Alessandra, Canosa Antonio, Manera Umberto, Vasta Rosario, Iazzolino Barbara, Testa Marcella, Fuda Giuseppe, Salamone Paolina, Marchese Giulia, Casale Federico, Moglia Cristina, Calvo Andrea, Borghero Giuseppe, Chiò Adriano
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. METHODS: We investigated sex-specific genetic architecture in an Italian ALS cohort with whole-genome sequencing (1,333 ALS cases, 755 controls). We performed a sex-stratified burden analysis of rare variants in ALS-associated genes and compared...
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