A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia

Brain Dev. 2016 Sep;38(8):755-8. doi: 10.1016/j.braindev.2016.02.010. Epub 2016 May 13.


Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible. We here describe a 16-year-old male patient with PKAN presenting with severe and sustained jaw-opening dystonia which may be due to heterogeneous etiologies showing poor response to treatment. Herein, long-term follow-up and genetic results of a PKAN case who experienced severe jaw-opening dystonia are presented and discussed.

Keywords: Compound heterozygousity; Jaw-opening dystonia; PANK2; Pantothenate kinase-associated neurodegeneration; “Eye-of-the-tiger”.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Brain / diagnostic imaging
  • Diagnosis, Differential
  • Follow-Up Studies
  • Humans
  • Male
  • Movement / physiology
  • Pantothenate Kinase-Associated Neurodegeneration / diagnostic imaging
  • Pantothenate Kinase-Associated Neurodegeneration / drug therapy
  • Pantothenate Kinase-Associated Neurodegeneration / genetics*
  • Pantothenate Kinase-Associated Neurodegeneration / physiopathology
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Severity of Illness Index
  • Video Recording
  • Young Adult


  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase