Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia

Parkinsonism Relat Disord. 2015 Mar;21(3):329-31. doi: 10.1016/j.parkreldis.2014.12.024. Epub 2015 Jan 8.
No abstract available

Keywords: Basal ganglia calcification; Genetic testing; IBGC3; Oromandibular dystonia; SLC20A2; THAP1.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Video-Audio Media

MeSH terms

  • Aged, 80 and over
  • Apoptosis Regulatory Proteins / genetics*
  • DNA-Binding Proteins / genetics*
  • Diagnosis, Differential
  • Dystonic Disorders / diagnosis*
  • Dystonic Disorders / genetics*
  • Face / pathology
  • Gene Deletion*
  • Humans
  • Male
  • Mandible / pathology
  • Nuclear Proteins / genetics*
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics*
  • Tongue / pathology

Substances

  • Apoptosis Regulatory Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III
  • THAP1 protein, human