title: Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging.
abstract: Paroxysmal kinesigenic dyskinesia is associated with macrostructural and microstructural abnormalities in the thalamus.
  
  
  
  To examine functional and structural connectivity of thalamocortical networks in paroxysmal kinesigenic dyskinesia and to further investigate the effect of mutation of the proline-rich transmembrane protein 2 on thalamocortical networks.
  
  
  
  Patients with paroxysmal kinesigenic dyskinesia (n = 20), subdivided into proline-rich transmembrane protein 2-mutated (n = 8) and nonmutated patients (n = 12) and healthy controls (n = 20) underwent resting-state functional MRI and diffusion imaging scan. The functional properties of correlations in neural activity (functional connectivity) and the structural properties of white matter probabilistic tractography (structural connectivity) were analyzed to characterize thalamocortical networks. Furthermore, the effect of proline-rich transmembrane protein 2 mutation on functional and structural connectivity of thalamocortical networks were examined using one-way analysis of variance among three groups.
  
  
  
  Patients had increased functional and structural connectivity between ventral lateral/anterior thalamic nuclei and a lateral motor area, as compared to controls. This functional connectivity positively correlated with disease duration. Interestingly, proline-rich transmembrane protein 2-mutated patients showed decreased functional connectivity and preserved structural connectivity, between mediodorsal nucleus and prefrontal cortex, compared to nonmutated patients and controls.
  
  
  
  Thalamomotor/premotor hyperconnectivity suggests abnormal communication between thalamus and motor cortex in patients. Furthermore, thalamoprefrontal hypoconnectivity in proline-rich transmembrane protein 2-mutated patients might indicate that proline-rich transmembrane protein 2 mutations result in inefficient thalamoprefrontal integration. Our findings facilitate a deeper understanding of the crucial role of thalamocortical dysconnectivity in the pathophysiological mechanisms of paroxysmal kinesigenic dyskinesia. © 2017 International Parkinson and Movement Disorder Society.
authors.affiliation: Key Laboratory for Neuroinformation of Ministry of Education, Center for Information in BioMedicine, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, P.R. China.
authors.forename: Zhiliang
authors.initials: Z
authors.lastname: Long
authors.affiliation: Department of Medical Imaging, Jinling Hospital, Nanjing University School of Medicine, Nanjing, P.R. China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Xu
authors.affiliation: Center for Cognition and Brain Disorders and the Affiliated Hospital, Hangzhou Normal University, Hangzhou, P.R. China.
authors.forename: Huan-Huan
authors.initials: HH
authors.lastname: Miao
authors.affiliation: Mental Health Education and Counseling Center, Zhejiang University, Hangzhou, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Department of Neurology, the Second Affiliated Hospital of Medial College, Zhejiang University, Hangzhou, P.R. China.
authors.forename: Mei-Ping
authors.initials: MP
authors.lastname: Ding
authors.affiliation: Key Laboratory for Neuroinformation of Ministry of Education, Center for Information in BioMedicine, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, P.R. China.
authors.forename: Huafu
authors.initials: H
authors.lastname: Chen
authors.affiliation: Department of Neurology, the Second Affiliated Hospital of Medial College, Zhejiang University, Hangzhou, P.R. China.
authors.forename: Zhi-Rong
authors.initials: ZR
authors.lastname: Liu
authors.affiliation: Key Laboratory for Neuroinformation of Ministry of Education, Center for Information in BioMedicine, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, P.R. China.|Department of Medical Imaging, Jinling Hospital, Nanjing University School of Medicine, Nanjing, P.R. China.|Center for Cognition and Brain Disorders and the Affiliated Hospital, Hangzhou Normal University, Hangzhou, P.R. China.
authors.forename: Wei
authors.initials: W
authors.lastname: Liao
mesh_terms: D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000000981:diagnostic imaging*; D002648:Child; D056324:Diffusion Tensor Imaging; D004421:Dystonia / Q000000981:diagnostic imaging*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D009434:Neural Pathways / Q000000981:diagnostic imaging*; D010100:Oxygen / Q000097:blood; D013788:Thalamus / Q000000981:diagnostic imaging*; D055815:Young Adult
chemical_list: D010100:Oxygen
keywords: PRRT2 mutation; functional connectivity; paroxysmal kinesigenic dyskinesia; thalamocortical network; white matter tractography