• Wei Liu, Yan Xiao, Ting Zheng, and Guangxiang Chen.
• Department of Radiology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
• J Neuroimaging. 2021 Mar 1; 31 (2): 272-276.

AbstractParoxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder of the nervous system, and little is known about its pathogenesis. Currently, the diagnosis of PKD is primarily based on clinical manifestations, with little objective evidence. Neuroimaging has been used to explore the pathological changes in cerebral structure and function associated with PKD. The current review highlights recent advances in neuroimaging to provide a better understanding of the neural mechanisms and early diagnosis of this disorder. Several studies utilizing single-photon emission computed tomography (CT), positron emission tomography, and structural and functional magnetic resonance imaging have found significant localized abnormalities in the caudate nucleus, putamen, pallidum, thalamus, and frontoparietal cortex in PKD patients. These studies have also revealed alterations in interhemispheric functional connectivity between the brain regions of bilateral cerebral hemispheres such as the putamen, primary motor cortex, supplementary motor area, dorsal lateral prefrontal cortex, and primary somatosensory cortex in these patients. In addition, proline-rich transmembrane protein 2 gene mutations can affect the functional organization of the brain in PKD. These results suggest that the neural mechanisms of PKD are associated with the disruption of both structural and/or functional properties in basal ganglia-thalamo-cortical circuitry and interhemispheric functional connectivity. PKD can be considered a circuitry/network disorder and is not restricted to localized structural and/or functional abnormalities. Multimodal neuroimaging combined with gene analysis can provide additional valuable information for a better understanding of the pathogenesis and early diagnosis of this disorder.© 2020 American Society of Neuroimaging.

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