ArticleHuman brain mapping2020
Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia.
Article in Human brain mapping, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings.European journal of neurology · 2022Pooled it
- Incomplete network restoration may be associated with higher relapse risk in women with major depressive disorder.Psychiatry and clinical neurosciences · 2026Article
- Structural Connectome Alterations in Alternating Hemiplegia of Childhood.Brain topography · 2026Article
- Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients WithHuman mutation · 2026Article
- Brain functional network topology and connectivity in primary blepharospasm.Frontiers in systems neuroscience · 2025Article
- Gray matter structural alterations of cortico-striato-thalamo-cortical loop in familial Paroxysmal Kinesigenic Dyskinesia.Heliyon · 2024Article
- Disrupted small-world white matter networks in patients with major depression and recent suicide plans or attempts.Brain imaging and behavior · 2024Article
- Topological alterations in white matter structural networks in fibromyalgia.Neuroradiology · 2023Article
- Topologically Disrupted Gray Matter Networks in Drug-Naïve Essential Tremor Patients With Poor Sleep Quality.Frontiers in neurology · 2022Article
- Disrupted Brain Functional Network Topology in Essential Tremor Patients With Poor Sleep Quality.Frontiers in neuroscience · 2022Article
- Disruption of gray matter morphological networks in patients with paroxysmal kinesigenic dyskinesia.Human brain mapping · 2021Article
- Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia.Human brain mapping · 2020Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
This 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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Registered trials
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