Nihan Hande Akcakaya1, Sibel Ugur Iseri2, Birdal Bilir3, Esra Battaloglu3, Pinar Tekturk4, Murat Gultekin5, Gokcen Akar6, Remzi Yigiter7, Hasmet Hanagasi4, Recep Alp8, Sultan Cagirici9, Mefkure Eraksoy4, Ugur Ozbek2, Zuhal Yapici4. 1. Department of Genetics, Institute of Aziz Sancar Experimental Medicine (ASDETAE), Istanbul University, Istanbul, Turkey. Electronic address: nhakcakaya@gmail.com. 2. Department of Genetics, Institute of Aziz Sancar Experimental Medicine (ASDETAE), Istanbul University, Istanbul, Turkey. 3. Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. 4. Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. 5. Department of Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. 6. Clinic of Neurology, Fatih Sultan Mehmet Training and Research Hospital, Istanbul, Turkey. 7. Department of Neurology, Dicle University, Faculty of Medicine, Gaziantep, Turkey. 8. Department of Neurology, Namik Kemal University, Faculty of Medicine, Tekirdag, Turkey. 9. Clinic of Neurology, Bakirkoy Sadi Konuk Training and Research Hospital, Istanbul, 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. CONCLUSION: The current report is the first patient series of PKAN from Turkey that expands the clinical and genetic spectrum of the disease.
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 PKANpatients 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. CONCLUSION: The current report is the first patient series of PKAN from Turkey that expands the clinical and genetic spectrum of the disease.