Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia

Lei Li; Du Lei; Xueling Suo; Xiuli Li; Chen Yang; Tianhua Yang; Jiechuan Ren; Guangxiang Chen; Dong Zhou; Graham J. Kemp; Qiyong Gong

doi:10.1002/hbm.25091

journal article Open Access Jun 27, 2020

Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia

Lei Li

Du Lei Xueling Suo Xiuli Li

Chen Yang

Tianhua Yang

Jiechuan Ren

Guangxiang Chen Dong Zhou

Graham J. Kemp Qiyong Gong

Human Brain Mapping Vol. 41 No. 14 pp. 3855-3866 · Wiley

View at Publisher Save 10.1002/hbm.25091

Abstract

AbstractThis study explored the topological characteristics of brain white matter structural networks in patients with Paroxysmal Kinesigenic Dyskinesia (PKD), and the potential influence of the brain network stability gene PRRT2 on the structural connectome in PKD. Thirty‐five PKD patients with PRRT2 mutations (PKD‐M), 43 PKD patients without PRRT2 mutations (PKD‐N), and 40 demographically‐matched healthy control (HC) subjects underwent diffusion tensor imaging. Graph theory and network‐based statistic (NBS) approaches were performed; the topological properties of the white matter structural connectome were compared across the groups, and their relationships with the clinical variables were assessed. Both disease groups PKD‐M and PKD‐N showed lower local efficiency (implying decreased segregation ability) compared to the HC group; PKD‐M had longer characteristic path length and lower global efficiency (implying decreased integration ability) compared to PKD‐N and HC, independently of the potential effects of medication. Both PKD‐M and PKD‐N had decreased nodal characteristics in the left thalamus and left inferior frontal gyrus, the alterations being more pronounced in PKD‐M patients, who also showed abnormalities in the left fusiform and bilateral middle temporal gyrus. In the connectivity characteristics assessed by NBS, the alterations were more pronounced in the PKD‐M group versus HC than in PKD‐N versus HC. As well as the white matter alterations in the basal ganglia‐thalamo‐cortical circuit related to PKD with or without PRRT2 mutations, findings in the PKD‐M group of weaker small‐worldness and more pronounced regional disturbance show the adverse effects of PRRT2 gene mutations on brain structural connectome.

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Cited By

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Effects of PRRT2 mutation on brain gray matter networks in paroxysmal kinesigenic dyskinesia

Xiuli Li, Du Lei · 2023

Cerebral Cortex

Metrics

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Citations

68

References

Details

Published: Jun 27, 2020
Vol/Issue: 41(14)
Pages: 3855-3866
License: View

Authors

L

Lei Li

Huaxi MR Research Center (HMRRC), Department of Radiology West China Hospital of Sichuan University Chengdu Sichuan Province China

D

Du Lei

Huaxi MR Research Center (HMRRC), Department of Radiology West China Hospital of Sichuan University Chengdu Sichuan Province China; Department of Psychiatry and Behavioral Neuroscience University of Cincinnati College of Medicine Cincinnati Ohio USA

X

Xueling Suo

Huaxi MR Research Center (HMRRC), Department of Radiology West China Hospital of Sichuan University Chengdu Sichuan Province China

X

Xiuli Li

Huaxi MR Research Center (HMRRC), Department of Radiology West China Hospital of Sichuan University Chengdu Sichuan Province China

C

Chen Yang

Huaxi MR Research Center (HMRRC), Department of Radiology West China Hospital of Sichuan University Chengdu Sichuan Province China

T

Tianhua Yang

Department of Neurology West China Hospital of Sichuan University Chengdu Sichuan Province China

J

Jiechuan Ren

Department of Neurology West China Hospital of Sichuan University Chengdu Sichuan Province China; Department of Neurology Beijing Tiantan Hospital, Capital Medical University Beijing China

G

Guangxiang Chen

Department of Radiology The Affiliated Hospital of southwest Medical University Luzhou China

D

Dong Zhou

Department of Neurology West China Hospital of Sichuan University Chengdu Sichuan Province China

G

Graham J. Kemp

Liverpool Magnetic Resonance Imaging Center (LiMRIC) and Institute of Life course and Medical Sciences University of Liverpool Liverpool UK

Q

Qiyong Gong

Huaxi MR Research Center (HMRRC), Department of Radiology West China Hospital of Sichuan University Chengdu Sichuan Province China; Psychoradiology Research Unit of Chinese Academy of Medical Sciences, Functional and Molecular Imaging Key Laboratory of Sichuan Province West China Hospital of Sichuan University Chengdu Sichuan China

Funding

National Natural Science Foundation of China

Cite This Article

Lei Li, Du Lei, Xueling Suo, et al. (2020). Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia. Human Brain Mapping, 41(14), 3855-3866. https://doi.org/10.1002/hbm.25091

Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia

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