dentatorubral-pallidoluysian atrophy

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dentatorubral-pallidoluysian atrophy2016-11-28T21:33:19+00:00

dentatorubral-pallidoluysian atrophy


Definition An autosomal dominant CAG–repeat disease (OMIM:125370) characterised by spinocerebellar degeneration, myoclonus epilepsy, dementia, cerebellar ataxia, and neuronal deposition of ubiquitin. It primarily affects the Japanese.

Clinical findings Ataxia, chorea, myoclonic epilepsy

Molecular pathology Defects of ATN1, which encodes atrophin 1 (OMIM:607462, UniProtKB: P54259), a transcriptional corepressor that also promotes vascular smooth cell migration and orientation, cause dentatorubral-pallidoluysian atrophy. 

Micro Loss of neurons in dentate nucleus, rubrum, globus pallidus, Luys’ body

Synonyms Ataxia—chorea—seizures—and dementia, DRPLA, dentatorubro-pallidoluysian atrophy, Haw River syndrome, myoclonic epilepsy with choreoathetosis, Naito-Oyanagi disease 


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