Pantothenate kinase-associated neurodegeneration (PKAN): Molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene

Morgan, Neil V.Kurian, ManjuSpiegel, Ronald J.2022-02-252022-02-252009Cangül, H. vd. (2009). "Pantothenate kinase-associated neurodegeneration (PKAN): Molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene". Turkish Journal of Pediatrics, 51(2), 161-165.0041-4301http://hdl.handle.net/11452/24646http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_624.pdfHere we report the clinical, neuroimaging, and molecular findings of a classic pantothenate kinase-associated neurodegeneration (PKAN) patient of Turkish origin. Our patient is the first reported case of PKAN in Turkey with molecular genetic confirmation of the diagnosis. The frameshift mutation c.821_822delCT of the PANK2 gene detected in our patient has only been described in such classic patients to date, and our case provides further evidence of the association of this mutation with the classic PKAN phenotype. Since this mutation is a rare disease-causing mutation in other populations, further studies of more Turkish PKAN patients will show if it is the result of a founder effect in this population. in our case, molecular diagnosis allowed accurate prenatal genetic testing and counseling for this family. This case report highlights the importance of magnetic resonance imaging and molecular investigation in children who have progressive neurodegenerative symptoms of parkinsonism, dystonia, pyramidal features, and dementia.eninfo:eu-repo/semantics/openAccessNeurodegeneration with brain iron accumulationPantothenate kinaseassociated neurodegenerationPKANPANK2Frameshift mutationConsanguineousEye-of-the-tigerHallervorden-spatz-syndromeBrain iron accumulationDiseasePhenotypePediatricsChildFrameshift mutationGenetic counselingHumansMagnetic resonance imagingMaleMolecular diagnostic techniquesPantothenate kinase-associated neurodegenerationPhosphotransferases (alcohol group acceptor)Prenatal diagnosisTurkeyPantothenate kinase-associated neurodegeneration (PKAN): Molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 geneArticle0002662915000112-s2.0-6714912996816116551219480328PediatricsPantothenate Kinase-Associated Neurodegeneration; Neuroaxonal Dystrophies; Neurodegeneration with Brain Iron AccumulationPantothenate kinase 2AcanthocytosisArticleBabinski reflexBlood smearBone marrow biopsyCase reportChildChoreoathetosisClinical featureDysarthriaDystoniaEvoked visual responseFrameshift mutationGait disorderGenetic associationGenetic counselingGenetic linkageHumanHyperreflexiaLymphocyteMaleMutational analysisNeurologic examinationNuclear magnetic resonance imagingNucleotide sequencePantothenate kinase associated neurodegenerationPrenatal screeningQuadriplegiaRetinopathySpasticitySpeech disorder