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


Yapici Z., Akcakaya N. H. , Tekturk P., Iseri S. A. U. , Ozbek U.

Brain & development, vol.38, no.8, pp.755-8, 2016 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 8
  • Publication Date: 2016
  • Doi Number: 10.1016/j.braindev.2016.02.010
  • Title of Journal : Brain & development
  • Page Numbers: pp.755-8

Abstract

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.