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

A história por detrás da ELA tipo 8: da primeira descrição do fenótipo à descoberta da mutação VAPB

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.

Keywords:
Spinal muscular atrophy; amyotrophic lateral sclerosis; ALS8; VAPB gene