Barbara Castellotti

Mutations in mitochondrial DNA polymerase γ (POLG) have been described to cause a wide variety of phenotypes.1, 2 Although less commonly reported, movement disorders have also been described, mainly parkinsonism or complex hyperkinetic movement disorder.3, 4 We present a child carrying two variants in the POLG gene presenting paroxysmal non-kinesigenic dyskinesias (PNKD) as the only manifestation of the disease. The patient is a 12-year-old girl born to healthy unrelated parents.

Elena Freri # Author Footnotes # Authors contributing equally. Elena Freri Footnotes # Authors contributing equally. Affiliations Department of Pediatric Neuroscience, full member of ERN EpiCARE, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Search for articles by this author Barbara Castellotti # Author Footnotes # Authors contributing equally. Barbara Castellotti Footnotes # Authors contributing equally.

To view the full text, please login as a subscribed user or purchase a subscription. Click here to view the full text on ScienceDirect. Fig. 1 A-C: EEG epochs during wakefulness, light sleep, and intermittent photic stimulation (IPS) at 1 Hz. D: Epochs of EMG traces during active muscle contraction showing bursts related to tremor (top) and myoclonic jerks (bottom). E: Traces of somatosensory evoked potentials: the asterisk indicates the N20 wave.