Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family
Ali S. Shalash,
Thomas W. Rösler,
Ibrahim Y. Abdelrahman,
Hatem S. Abulmakarem,
Stefanie H. Müller,
Franziska Hopfner,
Gregor Kuhlenbäumer,
Günter U. Höglinger,
Mohamed Salama
Affiliations
Ali S. Shalash
Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt
Thomas W. Rösler
Department of Neurology, School of Medicine, Technical University Munich, Munich, Germany; Department of Translational Neurodegeneration, German Center for Neurodegenerative Diseases (DZNE), Munich, Germany
Ibrahim Y. Abdelrahman
Radiation Biology Department, National Center for Radiation Research and Technology, Egyptian Atomic Energy Authority, Cairo, Egypt
Hatem S. Abulmakarem
Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt
Stefanie H. Müller
Institute of Health Informatics, UCL, London, UK
Franziska Hopfner
Department of Neurology, Hannover Medical School, Hannover, Germany
Gregor Kuhlenbäumer
Department of Neurology, Kiel University, Kiel, Germany
Günter U. Höglinger
Department of Neurology, School of Medicine, Technical University Munich, Munich, Germany; Department of Translational Neurodegeneration, German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Department of Neurology, Hannover Medical School, Hannover, Germany
Mohamed Salama
Institute of Global Health and Human Ecology, American University in Cairo (AUC), Cairo, Egypt; Faculty of Medicine, Mansoura University, Mansoura, Egypt; Corresponding author.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain. In the present report, we describe a family with 4 affected siblings presenting with variable clinical manifestations, e.g., parkinsonian features, dystonia and slow disease progression over 5 years. Exome sequencing revealed a causative variant in the pantothenate kinase 2 gene (PANK2). Variant NM_024960.6:c.710C > T was homozygous in all affected subjects. Our report describes the first genetically confirmed cases of PKAN in the Egyptian population. Studying genetics of neurodegenerative diseases in different ethnicities is very important for determining clinical phenotypes and understanding pathomechanisms of these diseases.
