Use

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder characterized by symptoms such as ataxia, choreoathetosis, dementia, and psychiatric disturbance in adults, and symptoms like ataxia, myoclonus, seizures, and progressive intellectual deterioration in children. DRPLA is caused by an expansion of a CAG trinucleotide repeat in the ATN1 gene. This test is useful for confirming the diagnosis of DRPLA in symptomatic patients and for predictive testing in individuals with a family history of the condition and a documented expansion of the ATN1 gene in an affected family member.