Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia

Parkinsonism Relat Disord. 2023 Apr:109:105310. doi: 10.1016/j.parkreldis.2023.105310. Epub 2023 Feb 4.
No abstract available

Keywords: DRD; Dopa-responsive dystonia; GCH1; HSP; Hereditary spastic paraplegia; L-dopa.

MeSH terms

  • Dystonic Disorders*
  • GTP Cyclohydrolase* / genetics
  • Heterozygote
  • Humans
  • Mutation
  • Pedigree

Substances

  • GTP Cyclohydrolase