Craniocervical dystonia with levodopa-responsive parkinsonism co-segregating with a pathogenic ANO3 mutation in a Taiwanese family

Parkinsonism Relat Disord. 2019 May:62:236-238. doi: 10.1016/j.parkreldis.2019.01.020. Epub 2019 Jan 24.
No abstract available

Keywords: ANO3; Anoctamin 3; Dystonia; Myoclonus; Parkinsonism; Young-onset.

Publication types

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

MeSH terms

  • Anoctamins / genetics*
  • Cervical Vertebrae / pathology
  • Dystonia / diagnosis
  • Dystonia / drug therapy
  • Dystonia / genetics*
  • Female
  • Genetic Variation / genetics
  • Humans
  • Levodopa / therapeutic use*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / drug therapy
  • Parkinsonian Disorders / genetics*
  • Pedigree
  • Skull / pathology
  • Taiwan
  • Young Adult

Substances

  • ANO3 protein, human
  • Anoctamins
  • Levodopa