Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family

Abstract Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain. In present report, we describe family with 4 affected siblings presenting variable clinical manifestations, e.g., parkinsonian features, dystonia and slow progression over 5 years. Exome sequencing revealed causative variant in pantothenate kinase 2 gene (PANK2). Variant NM_024960.6:c.710C > T was homozygous all subjects. Our report describes first genetically confirmed cases PKAN Egyptian population. Studying genetics diseases different ethnicities very important for determining phenotypes understanding pathomechanisms these diseases.