dentatorubral-pallidoluysian atrophy


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dentatorubral-pallidoluysian atrophy

a hereditary disorder [MIM#125370] common in Japan that manifests itself with progressive ataxia, myoclonus, seizures, and cognitive impairment; due to abnormal CAG repeats on chromosome. The gene locus is 12p13.31.
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References in periodicals archive ?
Dentatorubral-pallidoluysian atrophy CAG trinucleotide repeats analysis
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
We use silver staining [2] of PCR products to detect expanded CAG trinucleotide repeats in other diseases as well, specifically, spinal bulbar muscular atrophy (expanded repeat length range 40-62), spinal cerebellar ataxia type I (40-82), and dentatorubral-pallidoluysian atrophy (49-75).