CV Lattes
ORCID
Abstract
Amyotrophic Lateral Sclerosis type 8 (ALS8) is a monogenic, autosomal dominant, type of motor neuron disease. Currently, the commonest pathogenic variant associated with this disorder is a missense mutation in VAPB gene (p.P56S), identified in a large Brazilian genealogy. ALS8 is also notable for its wide variability in clinical manifestations and onset of symptoms, characteristics which …