Functional Brain Alterations in Paroxysmal Kinesigenic Dyskinesia Associated with PRRT2 Mutations: A Resting-State fMRI Study

Motivation: Paroxysmal kinesigenic dyskinesia(PKD) with PRRT2 mutations presents different clinical features, yet the underlying neurobiological mechanisms remain to be elucidated. Goal(s): Our goal was to clarify brain activity patterns in PKD patients with and without PRRT2 mutations. Approach: Besides health controls, We collected resting-state functional magnetic resonance imaging (rs-fMRI) data from PKD patients with PRRT2 mutations and PKD patients without PRRT2 mutations. Based on fractional amplitude of low-frequency fluctuations (fALFF), we explored group differences and clinical correlations. Results: Significant differences of fALFF were identified among participants in several brain regions, including parahippocampal gyrus, superior frontal gyrus, lingual gyrus and cerebellum. Impact: Altered brain activity in PKD patients based on fALFF could help further understand the neuropathophysiological mechanisms of the disease and search for objective markers.