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 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 8
  • Publication Date: 2016
  • Doi Number: 10.1016/j.braindev.2016.02.010
  • Journal Name: Brain & development
  • Journal Indexes: Science Citation Index Expanded
  • Page Numbers: pp.755-8
  • Keywords: Jaw-opening dystonia, Pantothenate kinase-associated neurodegeneration, PANK2, Compound heterozygousity, "Eye-of-the-tiger", KINASE-ASSOCIATED NEURODEGENERATION

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.