Electroclinical features of epilepsy in patients with juvenile type dentatorubral-pallidoluysian atrophy
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چکیده
منابع مشابه
Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy.
BACKGROUND Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration that exhibits a variety of neurologic manifestations. However, only a few reports have studied disturbances outside the central nervous system. We described 2 unrelated patients with DRPLA accompanied by corneal endothelial degeneration. PATIENTS AND METHODS A 52-year-old man presente...
متن کاملDentatorubral pallidoluysian atrophy in a Turkish family.
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 present...
متن کاملMR of childhood-onset dentatorubral-pallidoluysian atrophy.
MR findings in a 14-year-old boy with progressive myoclonic epilepsy, who was diagnosed as having dentatorubral-pallidoluysian atrophy by DNA analysis, were compared with those of his father, who had adult-onset dentatorubral-pallidoluysian atrophy. Besides showing severe brain atrophy, especially of the brain stem tegmentum and cerebellum, MR showed diffuse periventricular hyperintensity on T2...
متن کاملDentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong.
We report on two Hong Kong Chinese families with dentatorubral-pallidoluysian atrophy. Two children in one family presented with progressive myoclonic epilepsy syndrome, and two children in the other family presented with ataxochoreo-athetoid symptoms. Early-onset childhood dentatorubral-pallidoluysian atrophy involved mental retardation, whereas myoclonic epilepsy was the predominant complaint...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2008
ISSN: 0013-9580,1528-1167
DOI: 10.1111/j.1528-1167.2008.01701.x