Paroxysmal kinesigenic dyskinesia

Huang, Xiaojun; Wang, Tian; Wang, Junling; Liu, Xiaoli; Che, Xiang-Qian; Jin, Li; Mao, Xing; Zhang, Mei; Bi, Guang-Hui; Li, Wu; Zhang, Yu; Wang, Jingyi; Shen, Jun; Tang, Beisha; Cao, Li; Chen, Shengdi

doi:10.1212/wnl.0000000000002079

Cited by 74 publications

(34 citation statements)

References 38 publications

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“…8 Neuroimaging of PKD-D, PKD-C or a mixture of both types has also failed to completely define specific neural characteristics that allow differentiation between these disorders. 9,10 At present, diagnosis of PKD mainly relies on these clinical characteristics, in the absence of reliable PKD-D- or PKD-C-specific neuromarkers.…”

Section: Introductionmentioning

confidence: 99%

Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia

Liu

Miao

et al. 2016

Medicine

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The neurobiological basis of paroxysmal kinesigenic dyskinesia (PKD) is poorly defined due to the lack of reliable neuroimaging differences that can distinguish PKD with dystonia (PKD-D) from PKD with chorea (PKD-C). Consequently, diagnosis of PKD remains largely based on the clinical phenotype. Understanding the pathophysiology of PKD may facilitate discrimination between PKD-D and PKD-C, potentially contributing to more accurate diagnosis.We conducted resting-state functional magnetic resonance imaging on patients with PKD-D (n = 22), PKD-C (n = 10), and healthy controls (n = 32). Local synchronization was measured in all 3 groups via regional homogeneity (ReHo) and evaluated using receiver operator characteristic analysis to distinguish between PKD-C and PKD-D.Cortical-basal ganglia circuitry differed significantly between the 2 groups at a specific frequency. Furthermore, the PKD-D and PKD-C patients were observed to show different spontaneous brain activity in the right precuneus, right putamen, and right angular gyrus at the slow-5 frequency band (0.01–0.027 Hz).The frequency-specific abnormal local synchronization between the 2 types of PKD offers new insights into the pathophysiology of this disorder to some extent.

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Section: Introductionmentioning

confidence: 99%

Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia

Liu

Miao

et al. 2016

Medicine

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“…In previous studies, point and frameshift mutations in PRRT2 were identified in 61.5%–100% of familial cases of PKD (Huang et al, 2015; Liu et al, 2013). Even in sporadic cases, the majority point and frameshift mutations of PRRT2 were inherited from unaffected parents (Ebrahimi‐Fakhari, Saffari, Westenberger, & Klein, 2015).…”

Section: Discussionmentioning

confidence: 93%

“…PRRT2 is the most common causative gene for PKD. Mutations of PRRT2 , including point mutations and frameshift mutations, explain approximately less than one‐half of PKD cases (Huang et al, 2015), suggesting the presence of additional molecular pathogenic mechanisms. In this study, PRRT2 CNVs were identified in two patients with PKD, indicating that copy number deletion of PRRT2 is also a potential pathogenic factor for the disease.…”

Section: Discussionmentioning

confidence: 99%

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16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability

Wang

et al. 2018

Brain and Behavior

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IntroductionMutations of the PRRT2 gene are the most common cause for paroxysmal kinesigenic dyskinesia. However, patients with negative PRRT2 mutations are not rare. The aim of this study is to determine whether copy number variant of PRRT2 gene is another potential pathogenic mechanism in the patients with paroxysmal kinesigenic dyskinesia with negative PRRT2 point and frameshift mutations.MethodsWe screened PRRT2 copy number variants using the AccuCopy™ method in 29 patients with paroxysmal kinesigenic dyskinesia with negative PRRT2 point and frameshift mutations. Next‐generation sequencing was used to determine the chromosomal deletion sites in patients with PRRT2 copy number variants, and to exclude mutations in other known causative genes for paroxysmal kinesigenic dyskinesia.ResultsTwo sporadic patients with negative PRRT2 point and frameshift mutations (6.9%) were identified to have de novo PRRT2 copy number deletions (591 and 832 Kb deletions located in 16p11.2). The two patients presented with pure paroxysmal kinesigenic dyskinesia and paroxysmal kinesigenic dyskinesia and benign infantile convulsions, respectively. They had normal intelligence and neuropsychiatric development, in contrast to those previously reported with 16p11.2 deletions complicated with neuropsychiatric disorders. No correlation between the deletion ranges and phenotypic variations was found.Conclusion16p11.2 deletions play causative roles in paroxysmal kinesigenic dyskinesia, especially for sporadic cases. Our findings extend the phenotype of 16p11.2 deletions to pure paroxysmal kinesigenic dyskinesia. Screening for 16p11.2 deletions should thus be included in genetic evaluations for patients with paroxysmal kinesigenic dyskinesia.

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“…먼저 (Yuan et al, 2012;Bae et al, 2011;Gao et al, 2011;Pech et al, 2010;Kaempgen et al, 2009;In et al, 2006 (Ning et al, 2016;Pei et al, 2016;Huang et al, 2015;Ramadoss and Kim, 2014 (Choi, et al, 2012;Li, et al, 2011;Chen, et al, 2010). …”

Section: 리그닌 기반 탄소나노섬유 매트 (Lcnfm)의 제조mentioning

confidence: 99%

Electrochemical Characteristics of Supercapacitor Electrode Using MnO₂Electrodeposited Carbon Nanofiber Mats from Lignin-g-PAN Copolymer

Kim¹,

Youe²,

Kim³

2016

Journal of the Korean Wood Science and Technology

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The MnO 2 electrodeposited on the surface of the carbon nanofiber mats (MnO 2 -LCNFM) were prepared from electrospun lignin-g-PAN copolymer via heat treatments and subsequent MnO 2 electrodeposition method. The resulting MnO 2 -LCNFM was evaluateed for its potential use in a supercapicitor electrode. The increase of MnO 2 electric deposition time was revealed to increase diameter of carbon nanofibers as well as MnO 2 content on the surface of carbon nanofiber mats as confirmed by scanning electon microscope (SEM) analysis. The electrochemical properties of MnO 2 -LCNFM electrodes are evaluated through cyclic voltammetry test. It was shown that MnO 2 -LCNFM electrode exhibited good electrochemical performance with specific capacitance of 168.0 mF⋅cm -2 . The MnO 2 -LCNFM supercapacitor successfully fabricated using the gel electrolyte (H 3 PO 4 /Polyvinyl alcohol) showed to have the capacitance efficiency of ∼90%, and stable behavior during 1,000 charging/discharging cycles.

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Paroxysmal kinesigenic dyskinesia

Cited by 74 publications

References 38 publications

Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia

Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability

Electrochemical Characteristics of Supercapacitor Electrode Using MnO₂Electrodeposited Carbon Nanofiber Mats from Lignin-g-PAN Copolymer

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Paroxysmal kinesigenic dyskinesia

Cited by 74 publications

References 38 publications

Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia

Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability

Electrochemical Characteristics of Supercapacitor Electrode Using MnO2Electrodeposited Carbon Nanofiber Mats from Lignin-g-PAN Copolymer

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Electrochemical Characteristics of Supercapacitor Electrode Using MnO₂Electrodeposited Carbon Nanofiber Mats from Lignin-g-PAN Copolymer