A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Mov Disord Clin Pract. 2024 Jun;11(6):746-748. doi: 10.1002/mdc3.14025. Epub 2024 Mar 26.
No abstract available

Keywords: NADGP; Peruvian; neurodegeneration; recessive ataxia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Ataxia / genetics
  • Dystonia* / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Neurodegenerative Diseases / diagnosis
  • Neurodegenerative Diseases / genetics
  • Pedigree
  • Peru
  • Sequestosome-1 Protein* / genetics

Substances

  • SQSTM1 protein, human
  • Sequestosome-1 Protein