Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia

We report a patient with intellectual disability and this unique phenotype associated with homozygous missense mutation in the DLAT gene (c.470T>G; p.Val157Gly) that encodes the E2 component of the pyruvate dehydrogenase complex (PDC). This case of PED associated with DLAT mutations broadens the phenotypic spectrum for this ultra-rare condition and widens the range of potentially treatable PEDs.

Source: Neurology - November 27, 2017 Category: Neurology Authors: Friedman, J., Feigenbaum, A., Chuang, N., Silhavy, J., Gleeson, J. G. Tags: All Movement Disorders, Dystonia CLINICAL/SCIENTIFIC NOTES Source Type: research