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GTR Home > Conditions/Phenotypes > Dentatorubral-pallidoluysian atrophy

Summary

Excerpted from the GeneReview: DRPLA
DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by five cardinal features (irrespective of the age of onset): ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Onset ranges from infancy to late adulthood (range: age 0-72 years; mean: age 31.5 years). The clinical presentation varies by age of onset: individuals with juvenile onset (before age 20 years) have myoclonus, epilepsy, and progressive intellectual deterioration, whereas individuals with adult onset (after age 20 years) have ataxia, choreoathetosis, and dementia or neuropsychiatric changes. Disease duration is on average eight years (range: 0-35 years) and age at death is on average 49 years (range: age 18-80 years).

Genes See tests for all associated and related genes

  • Also known as: B37, CHEDDA, D12S755E, DRPLA, HRS, NOD, ATN1
    Summary: atrophin 1

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