Browsing by Author "Karkucak, M."

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    Clinical Effect of A Mutation (P.Glu322asp, C.966 G>T) in Pank2 Gene in A Family with Atypical Pantothenate Kinase-Associated Neurodegeneration
    (2016) Ayas, Z. Ozozen; Karkucak, M.; Ocal, R. Oncel; Yakut, T.; 30226968; ABI-5648-2022
    Clinical 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.