Abstract #1457

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

Yujie Song^1,2, Jinping Lin², Bin Guo², and Qiyong Gong^2,3,4,5

¹Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China, ²Xiamen Key Laboratory of Psychoradiology and Neuromodulation, Department of Radiology, West China Xiamen Hospital of Sichuan University, Xiamen, Fujian, China, ³Department of Radiology, Huaxi MR Research Center (HMRRC), West China Hospital of Sichuan University, Chengdu, Sichuan, China, ⁴Research Unit of Psychoradiology, Chinese Academy of Medical Sciences, Chengdu, Sichuan, China, ⁵Functional and Molecular Imaging Key Laboratory of Sichuan Province, West China Hospital of Sichuan University, Chengdu, Sichuan, China

Synopsis

Keywords: fMRI Analysis, Rare disease

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.

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