Ayas, Z. OzozenKarkucak, M.Öcal, R. ÖncelYakut, Tahsin2024-08-152024-08-152016-01-011015-8146https://hdl.handle.net/11452/44030Clinical effect of a mutation (p.glut322asp, c.966 G>T) in PANK2 gene in a family with atypical pantothenate kinase-associated neurodegeneration: Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene. Many different mutations in the PANK2 gene have been detected in association with PKAN. A 20 year old female patient who had been suffering from progressive gait disorder for 1 year was found to have the 'eye-of-the-tiger sign' from the brain magnetic resonance imaging (MRI). The same brain imaging findings were shown in the father and brother of the patient, whose parents arranged a consanguineous marriage. We found c.966 G>T (p.Glu322Asp) mutation in the PANK2 gene mutation analysis in the individuals from the brain imaging findings. Although individuals in this family who had a homozygous mutation in PANK2 gene analyses had the 'eye-of-the-tiger' sign and atypical disease, they were noted to have differing clinical findings.eninfo:eu-repo/semantics/closedAccessHallervorden-spatz-syndromePatientPantothenate-kinase-associated neurodegenerationPank2 geneGene mutationScience & technologyLife sciences & biomedicineBiotechnology & applied microbiologyGenetics & heredityMedical ethicsMedicine, research & experimentalBiotechnology & applied microbiologyGenetics & heredityMedical ethicsResearch & experimental medicineArticle000395220800006489494274