The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation

Abstract

Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr.

A comparative study of cognitive and behavioral profiles between sporadic and type 8 amyotrophic lateral sclerosis

“…7 In Brazil, the vesicle-associated membrane protein B (VAPB) gene mutation (p.P56S) represents the predominant cause of familial motor neuron diseases (MNDs), known as ALS type 8 (ALS8). 8 Initially identified in patients with late-onset spinal muscular atrophy, type Finkel (OMIM 182980), 9,10 the VAPB mutation triggers slowly progressive lower motor neuron degeneration. [11][12][13] Previous ALS8 descriptions did not describe cognitive deficits.…”