Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders

Mov Disord. 2024 Jun;39(6):1072-1074. doi: 10.1002/mds.29745. Epub 2024 Feb 15.
No abstract available

Keywords: THAP1; dystonia; next‐generation sequencing; parkinsonism; phenotype expansion.

Publication types

  • Letter
  • Case Reports

MeSH terms

  • Apoptosis Regulatory Proteins* / genetics
  • DNA-Binding Proteins* / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Nuclear Proteins* / genetics
  • Parkinsonian Disorders* / genetics
  • Phenotype

Substances

  • Apoptosis Regulatory Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • THAP1 protein, human