Amyotrophic lateral sclerosis type 8 (ALS8) is an autosomal dominant form of ALS, which is caused by pathogenic variants in the VAPB gene. Here we investigated five ALS8 patients, classified as 'severe' and 'mild' from a gigantic Brazilian kindred, carrying the same VAPB mutation but displaying different clinical courses. Copy number variation and whole exome sequencing analyses in such individuals ruled out previously described genetic modifiers of pathogenicity.
View Article and Find Full Text PDFObjective: The aim of this study was to investigate the short- and long-term effects of a maternal low-protein diet during lactation on offspring laryngeal morphology. Our hypothesis was that a neonatal low-protein diet during the critical period of development alters micro- and macroscopic structures of the larynx in adult rats.
Methods: Male Wistar rats were assigned to a control (casein 17%, n=24) or low-protein (casein 8%, n=24) group according to their mother's diet during lactation.