Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.


Akcakaya N. H. , Iseri S. U. , Bilir B., Battaloglu E., Tekturk P., GÜLTEKİN M., ...More

Clinical neurology and neurosurgery, vol.154, pp.34-42, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 154
  • Publication Date: 2017
  • Doi Number: 10.1016/j.clineuro.2017.01.011
  • Title of Journal : Clinical neurology and neurosurgery
  • Page Numbers: pp.34-42

Abstract

Objective: Pantothenate kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase 2 (PANK2) gene. The major clinical sign of PKAN is dystonia and the eye-of-the-tiger pattern on the MRI has been a clue for the diagnosis. We aim to discuss clinical and genetic findings of 22 PKAN patients from 13 families.