Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8

Parkinsonism Relat Disord. 2021 Apr:85:26-28. doi: 10.1016/j.parkreldis.2021.02.011. Epub 2021 Feb 17.
No abstract available

Keywords: Glut1 Deficiency Syndrome; Hereditary; Parkinson Disease; Spastic Paraplegia; Wiskott-Aldrich Syndrome Protein.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Dystonia / diagnosis
  • Dystonia / etiology
  • Dystonia / genetics
  • Dystonia / physiopathology*
  • Female
  • Humans
  • Middle Aged
  • Paraplegia / complications
  • Paraplegia / diagnosis
  • Paraplegia / genetics
  • Paraplegia / physiopathology*
  • Phenotype
  • Proteins / genetics
  • Spastic Paraplegia, Hereditary / complications
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics
  • Spastic Paraplegia, Hereditary / physiopathology*

Substances

  • Proteins
  • WASHC5 protein, human

Supplementary concepts

  • Spastic Paraplegia Type 8