Rapidly progressive bulbar-onset ALS due to SS18L1 mutation

Rev Neurol (Paris). 2020 Mar;176(3):217-219. doi: 10.1016/j.neurol.2019.06.008. Epub 2019 Sep 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology*
  • Brazil
  • Bulbar Palsy, Progressive / diagnosis
  • Bulbar Palsy, Progressive / etiology
  • Bulbar Palsy, Progressive / genetics
  • Bulbar Palsy, Progressive / pathology
  • Disease Progression
  • Humans
  • Male
  • Mutation, Missense*
  • Time Factors
  • Trans-Activators / genetics*

Substances

  • SS18L1 protein, human
  • Trans-Activators