Dentatorubral pallidoluysian atrophy in a Turkish family.

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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 .