title: Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.
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.
  
  
  METHODS
  Twenty-two patients were clinically diagnosed with PKAN and screened for PANK2 mutations. The patients were classified according to their onset age and progression rate.
  
  
  RESULTS
  Mutation screening revealed 5 novel and 7 previously reported sequence variants in PANK2. The variants identified were in the form of missense changes, small exonic deletions and intronic mutations with a probable splicing effect. The presenting features were dystonia and gait disturbance in early onset patients, whereas the presenting symptoms were variable for the late onset group. The progression rate of the disease was not uniform.
  
  
  CONCLUSIONS
  The current report is the first patient series of PKAN from Turkey that expands the clinical and genetic spectrum of the disease.
authors.affiliation: Department of Genetics, Institute of Aziz Sancar Experimental Medicine (ASDETAE), Istanbul University, Istanbul, Turkey. Electronic address: nhakcakaya@gmail.com.
authors.forename: Nihan Hande
authors.initials: NH
authors.lastname: Akcakaya
authors.affiliation: Department of Genetics, Institute of Aziz Sancar Experimental Medicine (ASDETAE), Istanbul University, Istanbul, Turkey.
authors.forename: Sibel Ugur
authors.initials: SU
authors.lastname: Iseri
authors.affiliation: Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
authors.forename: Birdal
authors.initials: B
authors.lastname: Bilir
authors.affiliation: Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
authors.forename: Esra
authors.initials: E
authors.lastname: Battaloglu
authors.affiliation: Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Pinar
authors.initials: P
authors.lastname: Tekturk
authors.affiliation: Department of Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Gultekin
authors.affiliation: Clinic of Neurology, Fatih Sultan Mehmet Training and Research Hospital, Istanbul, Turkey.
authors.forename: Gokcen
authors.initials: G
authors.lastname: Akar
authors.affiliation: Department of Neurology, Dicle University, Faculty of Medicine, Gaziantep, Turkey.
authors.forename: Remzi
authors.initials: R
authors.lastname: Yigiter
authors.affiliation: Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Hasmet
authors.initials: H
authors.lastname: Hanagasi
authors.affiliation: Department of Neurology, Namik Kemal University, Faculty of Medicine, Tekirdag, Turkey.
authors.forename: Recep
authors.initials: R
authors.lastname: Alp
authors.affiliation: Clinic of Neurology, Bakirkoy Sadi Konuk Training and Research Hospital, Istanbul, Turkey.
authors.forename: Sultan
authors.initials: S
authors.lastname: Cagirici
authors.affiliation: Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Mefkure
authors.initials: M
authors.lastname: Eraksoy
authors.affiliation: Department of Genetics, Institute of Aziz Sancar Experimental Medicine (ASDETAE), Istanbul University, Istanbul, Turkey.
authors.forename: Ugur
authors.initials: U
authors.lastname: Ozbek
authors.affiliation: Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Yapici
mesh_terms: D017668:Age of Onset; D018450:Disease Progression; D004421:Dystonia / Q000209:etiology; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D014421:Turkey
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase
keywords: Neurodegeneration with brain iron accumulation (NBIA); Pantothenate kinase 2 (PANK2); Pantothenate kinase-associated neurodegeneration (PKAN); Phenotype-genotype