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., et al.

CLINICAL NEUROLOGY AND NEUROSURGERY, cilt.154, ss.34-42, 2017 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 154
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.clineuro.2017.01.011
  • Dergi Adı: CLINICAL NEUROLOGY AND NEUROSURGERY
  • Sayfa Sayısı: ss.34-42

Özet

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.