A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia

Parkinsonism Relat Disord. 2021 May:86:58-60. doi: 10.1016/j.parkreldis.2021.03.020. Epub 2021 Mar 30.

Abstract

SPG78 is a subtype of hereditary spastic paraplegia(HSP) caused by ATP13A2 gene mutations. SPG78 was reported as complicated HSP in several cases, but was never associated with pure HSP. Here we report the first Chinese patient carrying a novel homozygous nonsense mutation in ATP13A2 presenting with pure HSP.

Keywords: ATP13A2 gene; Novel mutation; Pure hereditary spastic paraplegia.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics
  • Codon, Nonsense
  • Female
  • Humans
  • Proton-Translocating ATPases / genetics*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • ATP13A2 protein, human
  • Codon, Nonsense
  • Proton-Translocating ATPases