Clinical variability in Chinese families with Parkinson disease and SNCA duplication, including the shortest 139kb duplication

Parkinsonism Relat Disord. 2019 Nov:68:60-62. doi: 10.1016/j.parkreldis.2019.09.030. Epub 2019 Sep 28.
No abstract available

Keywords: Chromosomal microarray analysis; Duplication; MLPA; MMSE score; PET-FDG; PET/CT; Parkinson disease; SNCA.

Publication types

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

MeSH terms

  • Adult
  • China
  • Female
  • Gene Duplication
  • Humans
  • Male
  • Middle Aged
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology*
  • Pedigree
  • alpha-Synuclein / genetics*

Substances

  • SNCA protein, human
  • alpha-Synuclein