CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, 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.