Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
| Autor: | Esra Battaloglu, Nihan Hande Akçakaya, Murat Gultekin, Hasmet Hanagasi, Mefkure Eraksoy, Zuhal Yapici, Recep Alp, Pinar Tekturk, Gokcen Akar, Birdal Bilir, Remzi Yigiter, Ugur Ozbek, Sibel Aylin Ugur Iseri, Sultan Cagirici |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Pathology Turkey Late onset Disease 03 medical and health sciences 0302 clinical medicine PANTOTHENATE KINASE 2 medicine Humans Missense mutation Age of Onset Gait Disorders Neurologic Pantothenate Kinase-Associated Neurodegeneration Early onset Dystonia business.industry Neurodegeneration General Medicine medicine.disease PANK2 Pedigree Phosphotransferases (Alcohol Group Acceptor) 030104 developmental biology Disease Progression Surgery Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Clinical Neurology and Neurosurgery. 154:34-42 |
| ISSN: | 0303-8467 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect