A novel gene mutation in <i>PANK2</i> in a patient with severe jaw-opening dystonia

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

BRAIN & DEVELOPMENT, no.8, pp.755-758, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2016
  • Doi Number: 10.1016/j.braindev.2016.02.010
  • Journal Name: BRAIN & DEVELOPMENT
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.755-758
  • Istanbul University Affiliated: Yes

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. 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. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.