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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 154
  • Publication Date: 2017
  • Doi Number: 10.1016/j.clineuro.2017.01.011
  • Journal Name: Clinical neurology and neurosurgery
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.34-42
  • Keywords: Pantothenate kinase 2 (PANK2), Pantothenate kinase-associated, neurodegeneration (PKAN), Neurodegeneration with brain iron, accumulation (NBIA), Phenotype-genotype, KINASE-ASSOCIATED NEURODEGENERATION, BRAIN IRON ACCUMULATION, HALLERVORDEN-SPATZ-SYNDROME, THE-TIGER-SIGN, PANK2 GENE, MUTATIONS, DYSTONIA
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No


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.