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

Luiz Eduardo NovisMariana SpitzHélio Augusto Guizoni Teive
Published in: Arquivos de neuro-psiquiatria (2021)
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.
Keyphrases
  • amyotrophic lateral sclerosis
  • late onset
  • early onset