Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia

Li, Hongfu; Yang, Li; Yin, Dazhi; Chen, Wan‐Jin; Liu, Gong‐Lu; Wang, Ni; Wang, Ning; Yu, Wenwen; Wu, Zhi‐Ying; Wang, Zheng

doi:10.1016/j.parkreldis.2018.12.029

Cited by 18 publications

(23 citation statements)

References 32 publications

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“…PKD patients had decreased global integration (increased Lp ) and local segregation (decreased Cp , γ , and E loc ) of their GM morphological networks, that is, a shift toward a “weaker small‐worldness” pattern according to the classification of Suo and colleagues (Suo et al, 2018). These results may relate to alterations of GM structure, for which there is some evidence in PKD: direct evidence from high‐resolution T1‐weighted MRI studies have identified morphometric/volumetric GM changes in presupplementary motor area, inferior frontal gyrus (H. F. Li et al, 2019) and thalamus (Kim et al, 2015); indirect evidence from secondary PKD reported that PKD was associated with various brain abnormalities for example, in thalamus (Camac, Greene, & Khandji, 1990), putamen (Merchut & Brumlik, 1986), right frontotemporal region (Gilroy, 1982), and globus pallidus (Micheli, Fernandez Pardal, Casas Parera, & Giannaula, 1986). Our morphological network findings are consistent with a structural brain network study using DTI, which showed “weaker small‐worldness” in PKD (L. Li et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

“…Some previous studies in PKD failed to detect significant correlations between outcomes and illness duration (Kim et al, 2015; Zhou, Chen, Gong, et al, 2010; Zhou, Chen, Zhang, et al, 2010). However, Long et al (2017) found that the functional connectivity (FC) of the thalamo–motor‐cortical network was positively correlated with disease duration, and a recent study also reported a negative correlation of disease duration with GM volume in the presupplementary motor area (H. F. Li et al, 2019). Our results are consistent with this, suggesting that with greater illness duration the segregation (reflected by Cp ) of GM morphological networks decreased.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies have revealed a complex pattern of abnormalities affecting diverse subcortical regions including the basal ganglia and thalamus (Joo et al, 2005; Kim, Kim, Kim, Suh, & Koh, 2015; Shirane, Sasaki, Kogure, Matsuda, & Hashimoto, 2001; Zhou, Chen, Gong et al, 2010; Zhou, Chen, Zhang, et al, 2010), as well as cortical regions including the motor cortex, somatosensory cortex, presupplementary motor area and right inferior frontal gyrus (Hsu, Kwan, et al, 2013; Hsu, Liao, et al, 2013; H. F. Li et al, 2019; Liu et al, 2018) in PKD. However, the pathophysiological mechanisms in PKD are not fully understood.…”

Section: Introductionmentioning

confidence: 99%

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Disruption of gray matter morphological networks in patients with paroxysmal kinesigenic dyskinesia

Lei

Niu

et al. 2020

Human Brain Mapping

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This study explores the topological properties of brain gray matter (GM) networks in patients with paroxysmal kinesigenic dyskinesia (PKD) and asks whether GM network features have potential diagnostic value. We used 3D T1-weighted magnetic resonance imaging and graph theoretical approaches to investigate the topological organization of GM morphological networks in 87 PKD patients and 115 age-and sex-matched healthy controls. We applied a support vector machine to GM morphological network matrices to classify PKD patients versus healthy controls. Compared with the HC group, the GM morphological networks of PKD patients showed significant abnormalities at the global level, including an increase in characteristic path length (Lp) and decreases in local efficiency (E loc), clustering coefficient (Cp), normalized clustering coefficient (γ), and small-worldness (σ). The decrease in Cp was significantly correlated with disease duration and age of onset. The GM morphological networks of PKD patients also showed significant changes in nodal topological characteristics, mainly in the basal ganglia-thalamus circuitry, default-mode network and central executive network. Finally, we used the GM morphological network matrices to classify individuals as PKD patients versus healthy controls, achieving 87.8% accuracy. Overall, this study demonstrated disruption of GM morphological Xiuli Li and Du Lei contributed to the work equally.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Disruption of gray matter morphological networks in patients with paroxysmal kinesigenic dyskinesia

Lei

Niu

et al. 2020

Human Brain Mapping

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“…36 Another study found that PKD patients showed reduced mean diffusivity (MD) in the left precentral gyrus and supplementary motor area. 37 Zhou et al found that the FA of the right thalamus of paroxysmal kinesigenic choreoathetosis patients was significantly increased, while the FA of the left thalamus, the bilateral caudate nucleus, and the globus pallidus was also increased, but the differences were not statistically significant. The MD of the left thalamus in the patient group was significantly lower.…”

Section: Dti and Structural Mrimentioning

confidence: 98%

Neural Mechanisms of Paroxysmal Kinesigenic Dyskinesia: Insights from Neuroimaging

Liu

Yan

Tian

et al. 2020

Journal of Neuroimaging

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Paroxysmal 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.

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“…The abnormal basal ganglia−thalamic−cortical circuit is currently considered to be the pathophysiological basis of PKD [33][34][35][36]. Functional magnetic resonance imaging (MRI) studies have revealed an abnormal connectivity between the thalamus and the motor cortex in patients with PKD, and the functional abnormality is associated with the duration of the disease [37]. In patients with PRRT2 mutations, the thalamo−prefrontal hypoconnectivity has been observed, indicating that the PRRT2 mutations result in inefficient thalamo-prefrontal integration and dysfunction of motor inhibition [38].…”

Section: Etiology and Pathogenesismentioning

confidence: 99%

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

Cao¹,

Huang²,

Wang³

et al. 2021

Transl Neurodegener

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Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the etiology. Clinically, PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary action. The major cause of primary PKD is genetic abnormalities, and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete penetrance. The proline-rich transmembrane protein 2 (PRRT2) was the first identified causative gene of PKD, accounting for the majority of PKD cases worldwide. An increasing number of studies has revealed the clinical and genetic characteristics, as well as the underlying mechanisms of PKD. By seeking the views of domestic experts, we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for PKD. In this consensus, we review the clinical manifestations, etiology, clinical diagnostic criteria and therapeutic recommendations for PKD, and results of genetic analyses in PKD patients performed in domestic hospitals.

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Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia

Cited by 18 publications

References 32 publications

Disruption of gray matter morphological networks in patients with paroxysmal kinesigenic dyskinesia

Disruption of gray matter morphological networks in patients with paroxysmal kinesigenic dyskinesia

Neural Mechanisms of Paroxysmal Kinesigenic Dyskinesia: Insights from Neuroimaging

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

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