Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case

Dentatorubral-Pallidoluysian Atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in the ATN1 gene, characterized by diverse neurological and psychiatric symptoms. We report a 23-year-old patient with juvenile-onset seizures, cognitive decline, and ataxia, progressing to psychosis by age 31. Initial brain MRI showed minimal cerebellar atrophy, with prominent atrophy evident on follow-up imaging. Genetic testing confirmed DRPLA with expanded CAG repeats. Family history revealed anticipation, with varying presentations across generations. This case highlights DRPLA's complexity, diagnostic challenges due to symptom overlap, and the critical role of genetic testing in identifying this rare disorder.