Academic Journal
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
| العنوان: | Clinical and genetic features of PKAN patients in a tertiary centre in Turkey |
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| المؤلفون: | Akçakaya, Nihan Hande, Uğur İşeri, Sibel, Bilir, Birdal, Battaloğlu, Esra, Tektürk, Pınar, Gültekin, Murat, Yapıcı, Zuhal, Alp, Recep |
| بيانات النشر: | Elsevier Science Bv |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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 PI(AN from Turkey that expands the clinical and genetic spectrum of the disease. (C) 2017 Elsevier B.V. All rights reserved. ; Scientific Research Projects Coordination Unit of Istanbul UniversityIstanbul University [51985]; Istanbul Development AgencyTurkiye Cumhuriyeti Kalkinma Bakanligi [TR10/15/YNK/0093] ; The authors are grateful to the patients and their relatives for their participation in this study. This work was supported by grants from the Scientific Research Projects Coordination Unit of Istanbul University, Project Number 51985, and the Istanbul Development Agency, Project Number TR10/15/YNK/0093. We thank the Advanced Genomics and Bioinformatics Research Centre (IGBAM), TUBITAK-BILGEM, for kindly providing the exome sequencing data of 350 individuals from Turkey with varying disorders, which were used as a population control set for the novel PANK2 mutations. We also thank Dr. Thomas Klopstock and Dr. Holger Prokisch for their help in enrolling the patients in the TIRCON study. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0303-8467 1872-6968 28113101 |
| Relation: | Clinical Neurology and Neurosurgery; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1016/j.clineuro.2017.01.011; https://hdl.handle.net/20.500.11776/8920; 154; 34; 42; WOS:000396965600006; 2-s2.0-85009958038 |
| DOI: | 10.1016/j.clineuro.2017.01.011 |
| الاتاحة: | https://hdl.handle.net/20.500.11776/8920 https://doi.org/10.1016/j.clineuro.2017.01.011 |
| Rights: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.4D179DDE |
| قاعدة البيانات: | BASE |
| تدمد: | 03038467 18726968 28113101 |
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| DOI: | 10.1016/j.clineuro.2017.01.011 |