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., ...Daha Fazla

Clinical neurology and neurosurgery, cilt.154, ss.34-42, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 154
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.clineuro.2017.01.011
  • Dergi Adı: Clinical neurology and neurosurgery
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.34-42
  • Anahtar Kelimeler: 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
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

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.