Antecollis and Levodopa-Responsive Parkinsonism Are Late Features of Dravet Syndrome (P3.241)

Abstract

Objective: This study described the findings of motor assessments in an adult group of patients with Dravet Syndrome. Background: Dravet syndrome is one of the most severe epileptic encephalopathies. In addition to seizures, cognitive disabilities and gait disturbances are common features. Methods: Adults with clinical and genetic diagnosis of Dravet Syndrome were included. Previous exposure to antipsychotics was an exclusion criterion. A modified Unified Parkinson’s Disease Rating Scale was used. Results: Out of 14 patients, 12 entered the study (mean age: 27.9 ± 7.9). Eight patients (66[percnt]) fulfilled the diagnostic criteria for antecollis, whose severity significantly correlated with patients’ age (ρ = 0.59, p = 0.04). Three patients presented camptocormia, and one of them also had Pisa syndrome. Eleven out of the 12 (91[percnt]) patients presented with parkinsonism, which significantly correlated with patients’ age (ρ = 0.61, p = 0.03). Nine out of 12 (75 [percnt]) cases had gait abnormalities. Postural reflexes were impaired in all the patients with parkinsonism. Levodopa was offered to the four most affected cases; only two have received the medication, and both had significant improvement of slowness and rigidity. Conclusions: We describe for the first time that the majority of adult patients with Dravet Syndrome have features of parkinsonism and antecollis. Meaningful improvement after levodopa trial was seen. These findings expand the phenotype of a disease mainly known by its severe epilepsy and cognitive delay to include drug-responsive movement abnormalities. Knowledge of levodopa responsiveness may greatly diminish the burden of care of such complex patients.

Disclosure: Dr. Alfonso has nothing to disclose. Dr. Borlot has nothing to disclose. Dr. Lang has received personal compensation for activities with Abbvie, Allon Therapeutics, Avanir Pharmaceuticals, Biogen Idec, Boerhinger-Ingelheim, Bristol Meyers Squibb, Ceregene, Cipla, Intekrin, Lilly, Medtronic, Merck, Novartis, NeuroPhage Pharmace Dr. Andrade has nothing to disclose.