Abstracts

Rationale: Dentatorubral pallidoluysian atrophy (DRPLA) is an autosomal dominant form of progressive myoclonic epilepsy (PME) caused by excessive CAG trinucleotide repeats in ATN1 gene. Neurological manifestations are progressive ataxia, myoclonus, epilepsy, and dementia. Treatment is symptomatic with no disease modifying interventions. Case reports and open-label studies suggest perampanel (PER), a noncompetitive antagonist of AMPA receptor, may be effective in reducing seizures and myoclonus in patients with other forms of PME, such as Lafora and Unverricht-Lundborg diseases. One child with DRPLA was reported to respond to PER with decreased myoclonus and seizures and improved neurological function. We are reporting PER’s effect in two patients with severe DRPLA. Methods: Two patients diagnosed with DRPLA were treated with PER as adjunctive therapy. Medical charts were reviewed and caretakers interviewed to confirm clinical characteristics and symptoms. Family reports and examination were used to assess response to treatment and side effects. Results: Before starting PER, both patients had severe myoclonus, GTC seizures, and were non-ambulating and non-verbal with limited environmental interaction. (Table 1.) Following treatment with PER both patients had improved myoclonus, ambulation, and dramatic improvement in language, communication and interaction. (Table 2.) All benefits were maintained for over a year of follow-up. Conclusions: We report two patients with DRPLA who had improved myoclonus and motor ability and striking improvement in language and communication following PER treatment. We suggest that PER should be considered in patients with DRPLA. Larger clinical trials and study of underlying mechanisms will be important to confirm and further understand PER’s effect on symptoms and disease progression. Funding: No funding