The Broadening Clinical Spectrum Associated with ATP1A3 Mutations (P5.397)

Conclusions: This cohort illustrates the expanding phenotypic and genotypic variability of ATP1A3 mutations even within the RDP diagnosis suggesting that systematic testing of a wider clinical spectrum of patients is warranted.Disclosure: Dr. Meijer has nothing to disclose. Dr. Lubarr has nothing to disclose. Dr. Greene has nothing to disclose. Dr. Frucht has received personal compensation for activities with Merz Pharmaceuticals as a consultant. Dr. Raymond has nothing to disclose. Dr. Severt has received personal compensation for activities with Teva, Allergan, Impax, and Lundbeck. Dr. Shanker has nothing to disclose. Dr. Sachdev has nothing to disclose. Dr. Bressman has nothing to disclose. Dr. Ozelius has nothing to disclose. Dr. Saunders-Pullman has nothing to disclose.

Source: Neurology - April 3, 2016 Category: Neurology Authors: Meijer, I., Lubarr, N., Greene, P., Frucht, S., Raymond, D., Severt, W., Shanker, V., Sachdev, R., Bressman, S., Ozelius, L., Saunders-Pullman, R. Tags: Movement Disorders: Ataxia and Dystonia Source Type: research