The Core Clinical Features of MTATP6-Related Mitochondrial Disease (S30.005)

Conclusions: Only a minority of patients with MTATP6 mutations present with the classical LS and NARP syndromes. The vast majority of patients have an ataxia, peripheral neuropathy, and cognitive dysfunction and these should be considered core features in patients with genetic defects in MTATP6.Disclosure: Dr. Martikainen has nothing to disclose. Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Horvath has nothing to disclose. Professor Patrick F. Chinnery has received research support from Santhera Pharmaceuticals. Dr. Blakely has nothing to disclose. Dr. Alston has nothing to disclose. Dr. Taylor has nothing to disclose. Dr. McFarland has nothing to disclose. Dr. Turnbull has nothing to disclose.

Source: Neurology - February 7, 2016 Category: Neurology Authors: Martikainen, M., Ng, Y. S., Gorman, G., Schaefer, A., Horvath, R., Chinnery, P., Blakely, E., Alston, C., Taylor, R., McFarland, R., Turnbull, D. Tags: Movement Disorders: Ataxias and Other Hyperkinetic Movement Disorders Source Type: research