Clinical and genetic features of PKAN patients in a tertiary centre in Turkey

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dc.authorid0000-0001-8414-4017
dc.authorid0000-0001-5319-0547
dc.authorid0000-0002-4221-4459
dc.authorid0000-0002-0609-4269
dc.authorid0000-0002-5790-6853
dc.authorscopusid57189258386
dc.authorscopusid36445791100
dc.authorscopusid57207593418
dc.authorscopusid57195390478
dc.authorscopusid56200906700
dc.authorscopusid57192665800
dc.authorscopusid56376905000
dc.authorwosidAkcakaya, Nihan Hande/AAG-3089-2022
dc.authorwosidBattaloğlu, Esra/AAF-1559-2020
dc.authorwosidGultekin, Murat/AAQ-5865-2020
dc.authorwosidOzbek, Ugur/C-9513-2017
dc.authorwosidBilir, Birdal/AAD-7656-2020
dc.authorwosidGultekin, Murat/AAO-2604-2020
dc.authorwosidHanagasi, Hasmet A./AAT-9501-2020
dc.contributor.authorAkçakaya, Nihan Hande
dc.contributor.authorUğur İşeri, Sibel
dc.contributor.authorBilir, Birdal
dc.contributor.authorBattaloğlu, Esra
dc.contributor.authorTektürk, Pınar
dc.contributor.authorGültekin, Murat
dc.contributor.authorYapıcı, Zuhal
dc.contributor.authorAlp, Recep
dc.date.accessioned2022-05-11T14:40:16Z
dc.date.available2022-05-11T14:40:16Z
dc.date.issued2017
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Nöroloji Ana Bilim Dalı
dc.description.abstractObjective: 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.
dc.description.sponsorshipScientific Research Projects Coordination Unit of Istanbul UniversityIstanbul University [51985]; Istanbul Development AgencyTurkiye Cumhuriyeti Kalkinma Bakanligi [TR10/15/YNK/0093]
dc.description.sponsorshipThe 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.
dc.identifier.doi10.1016/j.clineuro.2017.01.011
dc.identifier.endpage42
dc.identifier.issn0303-8467
dc.identifier.issn1872-6968
dc.identifier.pmid28113101
dc.identifier.scopus2-s2.0-85009958038
dc.identifier.scopusqualityQ2
dc.identifier.startpage34
dc.identifier.urihttps://doi.org/10.1016/j.clineuro.2017.01.011
dc.identifier.urihttps://hdl.handle.net/20.500.11776/8920
dc.identifier.volume154
dc.identifier.wosWOS:000396965600006
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAlp, Recep
dc.language.isoen
dc.publisherElsevier Science Bv
dc.relation.ispartofClinical Neurology and Neurosurgery
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectPantothenate kinase 2 (PANK2)
dc.subjectPantothenate kinase-associated
dc.subjectneurodegeneration (PKAN)
dc.subjectNeurodegeneration with brain iron
dc.subjectaccumulation (NBIA)
dc.subjectPhenotype-genotype
dc.subjectKinase-Associated Neurodegeneration
dc.subjectBrain Iron Accumulation
dc.subjectHallervorden-Spatz-Syndrome
dc.subjectThe-Tiger-Sign
dc.subjectPank2 Gene
dc.subjectMutations
dc.subjectDystonia
dc.titleClinical and genetic features of PKAN patients in a tertiary centre in Turkey
dc.typeArticle

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