title: Dentatorubral pallidoluysian atrophy in a Turkish family.
abstract: Dentatorubral pallidoluysian atrophy is a neurodegenerative disease that generally presents in adulthood. Although rare, it can be observed in childhood due to extreme expansion of the triplet repeat size during spermatogenesis. The diagnosis in childhood is very difficult in the absence of family history. Here we describe a 12-year-old girl with dentatorubral pallidoluysian atrophy who presented with progressive myoclonic epilepsy and ataxia. Family history exhibited similarly affected cases on the paternal side. Molecular testing for dentatorubral pallidoluysian atrophy revealed abnormal "cytosine-adenine-guanosine" expansion in the atrophin-1 gene.
authors.affiliation: Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
authors.forename: Uluç
authors.initials: U
authors.lastname: Yiş
authors.forename: Eray
authors.initials: E
authors.lastname: Dirik
authors.forename: Asli
authors.initials: A
authors.lastname: Gündoğdu-Eken
authors.forename: A Nazli
authors.initials: AN
authors.lastname: Başak
mesh_terms: D002648:Child; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004587:Electrophoresis, Agar Gel; D005190:Family; D005260:Female; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D014421:Turkey
chemical_list: D009419:Nerve Tissue Proteins; C095278:atrophin-1; D004247:DNA