Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease

Mov Disord. 2021 Apr;36(4):1034-1038. doi: 10.1002/mds.28487. Epub 2021 Feb 5.
No abstract available

Keywords: AP5Z1; SPG48; epileptic seizures; hereditary spastic paraplegia; rare disease; spastic paraplegia 48; whole exome sequencing.

Publication types

  • Letter
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Mutation
  • Pedigree
  • Phenotype
  • Rare Diseases
  • Spastic Paraplegia, Hereditary* / diagnosis
  • Spastic Paraplegia, Hereditary* / genetics