The Turkish Journal of Pediatrics 2009 , Vol 51 , Num 6
Dentatorubral pallidoluysian atrophy in a Turkish family
1Division of Child Neurology, Gaziantep Children’s Hospital, Gaziantep, and, 2Division of Child Neurology, Department of Pediatrics Dokuz Eylül University Faculty of Medicine, İzmir, and 3Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey 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-adenineguanosine” expansion in the atrophin-1 gene. Keywords : child, progressive ataxia, myoclonic epilepsy, autosomal dominant inheritance.
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