PRJNA573740
Motor neurons RNA-seq from Amyotrophic Lateral Sclerosis type 8 (ALS8) samples
Amyotrophic Lateral Sclerosis type 8 (ALS8) is a very prevalent type of familial motorneuron disease in Brazil. This entity is associated with a single mutation in VAPB gene (VAPB c.156C&amp;gt;T; p.P56S) in Brazil, and a founder effect has been pointed as the underlying historical-genetic event causing such homogeneity. However, ALS8 patients present a great phenotypic variability, which ranges from a severe, fast progression ALS to a very mild disease manifestation with up to 30 years of clinical course. In this project we aimed at evaluating the genetic factors/ mechanisms associated with such variability, in order to search for therapeutic targets.