dentatorubral and pallidoluysian atrophy

(redirected from DRPLA)
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dentatorubral and pallidoluysian atrophy

An autosomal-dominant CAG repeat disease which is characterised by spinocerebellar degeneration, with selective destruction of cerebellar neurons—dentate nucleus, globus pallidus, and Luys body.
 
Clinical findings
Progressive ataxia, choreoathetosis, dystonia, seizures, myoclonus, dementia, mental retardation.
 
DiffDx
Machado-Joseph disease, spinocerebellar ataxia type 1, Huntington’s disease.

Molecular pathology
DRPLA is caused by an expansion of the polyglutamine region of ATN1, on chromosome 12p13.31, which encodes atrophin-1—which is thought to contain a nuclear localisation signal in the N-end and a nuclear export signal in the C-end.
References in periodicals archive ?
The same antibody techniques lend themselves to investigations of Huntington's disease, a much more common disorder than SCA1 or DRPLA.
As in the DRPLA and SCA1 studies, antibodies made by these researchers pick out two proteins, one larger than the other, in cells that possess a normal version of the Huntington's gene and a copy marred by too many CAG repeats.
In the various Huntington's and DRPLA studies, researchers have discovered no significant differences in the amount or location of mutant and normal proteins when they look at different types of neurons.