A novel OPTN variant causing PSP-CBS-like phenotype in familial amyotrophic lateral sclerosis

Parkinsonism Relat Disord. 2019 Dec:69:147-149. doi: 10.1016/j.parkreldis.2019.11.003. Epub 2019 Nov 9.
No abstract available

Keywords: Amyotrophic lateral sclerosis; Corticobasal syndrome; OPTN; PSP-CBS; Progressive supranuclear palsy.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Cell Cycle Proteins / genetics*
  • Codon, Nonsense
  • Female
  • Genotype
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Middle Aged
  • Parkinsonian Disorders / genetics
  • Pedigree
  • Phenotype
  • Siblings
  • Supranuclear Palsy, Progressive / genetics

Substances

  • Cell Cycle Proteins
  • Codon, Nonsense
  • Membrane Transport Proteins
  • OPTN protein, human

Supplementary concepts

  • Amyotrophic lateral sclerosis 1