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

Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length.

Diagnosis of Huntington disease

Recent work provides some insight into three deadly inherited neurodegenerative illnesses--Huntington's disease, SCA1, and dentatorubral and pallidoluysian atrophy (DRPLA)--caused by these genetic stutters.

When CAG spells trouble: DNA repeats may turn good proteins into bad

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