The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation
- Resource Type
- Authors
- NOVIS, Luiz Eduardo; SPITZ, Mariana; TEIVE, Hélio A. G.
- Source
- Arquivos de Neuro-Psiquiatria. August 2021 79(8)
- Subject
- Spinal muscular atrophy
amyotrophic lateral sclerosis
ALS8
VAPB gene
- Language
- English
- ISSN
- 0004-282X
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.