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Paroxysmal kinesigenic dyskinesia

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https://www.readbyqxmd.com/read/30307717/16p11-2-deletion-in-patients-with-paroxysmal-kinesigenic-dyskinesia-but-without-intellectual-disability
#1
Wen Li, Yifan Wang, Bin Li, Bin Tang, Hui Sun, Jinxing Lai, Na He, Bingmei Li, Heng Meng, Weiping Liao, Xiaorong Liu
INTRODUCTION: Mutations 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. METHODS: We screened PRRT2 copy number variants using the AccuCopy™ method in 29 patients with paroxysmal kinesigenic dyskinesia with negative PRRT2 point and frameshift mutations...
October 11, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/30293034/the-study-of-exercise-tests-in-paroxysmal-kinesigenic-dyskinesia
#2
Hai-Yan Zhou, Fei-Xia Zhan, Wo-Tu Tian, Chao Zhang, Yan Wang, Ze-Yu Zhu, Xiao-Li Liu, Yang-Qi Xu, Xing-Hua Luan, Xiao-Jun Huang, Sheng-Di Chen, Li Cao
OBJECTIVE: To unravel if there was muscular ion channel dysfunction in paroxysmal kinesigenic dyskinesia (PKD) patients using the exercises tests (ET). METHODS: Sixty PKD patients including 28 PRRT2 mutations carriers were enrolled in this study, as well as 19 hypokalaemic periodic paralysis (HypoPP) patients as the positive controls and 45 healthy subjects as the negative controls. ET including long exercise test (LET) and short exercise test (SET) was performed in the corresponding subjects...
September 15, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/30198221/paroxysmal-dyskinesia-in-children-from-genes-to-the-clinic
#3
Soo Yeon Kim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Sun Ah Choi, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae
BACKGROUND AND PURPOSE: Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children. METHODS: Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED)...
October 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/30176640/-paroxysmal-dyskinesias-disorder-categories-their-causes-and-treatment
#4
Magdalena Gontarz, Ewa Papuć, Konrad Rejdak
Paroxysmal dyskinesias refer to category of abnormal involuntary movements, such as chorea, dystonia, athetosis, ballism or their various configurations. Depending on the type of seizure, sudden movement, stress, emotions, coffee or alcohol may be the trigger factors. Acute seizures are characterized by short duration and are self-limitated. Patients present correct portray of movements between seizures. Intact consciousness during seizure is the invariable characteristic of all paroxysmal dyskinesias. The intent of this work is to systematize knowledge about paroxysmal dyskinesias...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/30125676/prrt2-related-phenotypes-in-patients-with-a-16p11-2-deletion
#5
Danique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, Lucia A A Giannini, Eva H Brilstra, Trijnie Dijkhuizen, Yvonne J Vos, Anne-Marie F van der Kevie-Kersemaekers, Jeroen Knijnenburg, Nicole de Leeuw, Rick van Minkelen, Claudia A L Ruivenkamp, Alexander P A Stegmann, Oebele F Brouwer, Conny M A van Ravenswaaij-Arts
We studied the presence of benign infantile epilepsy (BIE), paroxysmal kinesigenic dyskinesia (PKD), and PKD with infantile convulsions (PKD/IC) in patients with a 16p11.2 deletion including PRRT2 or with a PRRT2 loss-of-function sequence variant. Index patients were recruited from seven Dutch university hospitals. The presence of BIE, PKD and PKD/IC was retrospectively evaluated using questionnaires and medical records. We included 33 patients with a 16p11.2 deletion: three (9%) had BIE, none had PKD or PKD/IC...
August 17, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/30009426/a-prrt2-variant-in-a-chinese-family-with-paroxysmal-kinesigenic-dyskinesia-and-benign-familial-infantile-seizures-results-in-loss-of-interaction-with-stx1b
#6
Hongying Ma, Shenglei Feng, Xuejun Deng, Li Wang, Sheng Zeng, Cheng Wang, Xixiang Ma, Hao Sun, Rui Chen, Shiyue Du, Jinglin Mao, Xianwei Zhang, Cong Ma, Hong Jiang, Luoying Zhang, Beisha Tang, Jing Yu Liu
OBJECTIVE: To identify the causative gene of autosomal dominant paroxysmal kinesigenic dyskinesia and benign familial infantile seizures (PKD/BFIS) in a large Chinese family and explore the potential pathogenic mechanism of a PRRT2 (proline-rich transmembrane protein 2) variant. METHODS: Genetic testing was performed via whole exome sequencing. Western blotting and immunofluorescence were used to analyze the protein expression level and subcellular localization of the PRRT2 mutant in HeLa cells and N2A cells...
August 2018: Epilepsia
https://www.readbyqxmd.com/read/29984755/falling-after-starting-running-in-a-case-of-myoclonus-epilepsy-associated-with-ragged-red-fibers-with-a-8344a-g-mtdna-mutation
#7
Noriyuki Miyaue, Yuki Yamanishi, Satoshi Tada, Rina Ando, Masahiro Nagai, Masahiro Nomoto
Myoclonus epilepsy associated with ragged-red fibers (MERRF) is traditionally characterized by myoclonus, generalized epilepsy and ragged-red fibers. We herein report a 42-year-old man who complained of falling after starting running, symptoms resembling those of paroxysmal kinesigenic dyskinesia. He showed only slight muscle weakness of the right quadriceps femoris. Muscle pathology and a genetic analysis identified him as having MERRF with a 8344A>G mtDNA mutation. We diagnosed his symptoms as having been caused by slight quadriceps femoris muscle weakness and exercise intolerance...
July 6, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29984260/quick-flicks-association-of-paroxysmal-kinesigenic-dyskinesia-and-tics
#8
Bettina Balint, Sarah Wiethoff, Davide Martino, Claudia Del Gamba, Anna Latorre, Christos Ganos, Henry Houlden, Kailash P Bhatia
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterised by brief attacks of chorea, dystonia, or mixed forms precipitated by sudden movement. Methods: Observational study with a cohort of 14 PKD patients and genetic testing for PRRT2 mutations. Results: In a series of 14 PKD patients seen in our clinic at the National Hospital of Neurology, Queen Square, from 2012-2017, we noted tics in 11 patients (79%), which stand in stark contrast to the estimated lifetime prevalence of tics estimated to reach 1%...
May 2018: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/29912316/constitutive-inactivation-of-the-prrt2-gene-alters-short-term-synaptic-plasticity-and-promotes-network-hyperexcitability-in-hippocampal-neurons
#9
Pierluigi Valente, Alessandra Romei, Manuela Fadda, Bruno Sterlini, Davide Lonardoni, Nicola Forte, Floriana Fruscione, Enrico Castroflorio, Caterina Michetti, Giorgia Giansante, Flavia Valtorta, Jin-Wu Tsai, Federico Zara, Thierry Nieus, Anna Corradi, Anna Fassio, Pietro Baldelli, Fabio Benfenati
Mutations in PRoline-Rich Transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders including epilepsy, kinesigenic dyskinesia and migraine. Most of the mutations lead to impaired PRRT2 expression and/or function, emphasizing the pathogenic role of the PRRT2 deficiency. In this work, we investigated the phenotype of primary hippocampal neurons obtained from mouse embryos in which the PRRT2 gene was constitutively inactivated. Although PRRT2 is expressed by both excitatory and inhibitory neurons, its deletion decreases the number of excitatory synapses without significantly affecting the number of inhibitory synapses or the nerve terminal ultrastructure...
April 18, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29892195/misdiagnosed-atypical-paroxysmal-kinesigenic-dyskinesia-a-case-report
#10
Fen Pan, Shangda Li, Haimei Li, Yi Xu, Manli Huang
Background: Paroxysmal kinesigenic dyskinesia (PKD) is characterized by sudden episodes of involuntary movements. PKD is a very rare movement disorder, and correct clinical diagnosis is often a challenge. Case: We present the case of a 23-year-old female with PKD. The patient showed episodes of twisting movements for 3 years. The symptoms lasted for about 5-10 minutes and subsided spontaneously. She was diagnosed as having epilepsy, and depressive and anxiety disorders successively...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29735119/paroxysmal-dyskinesias
#11
Sara McGuire, Swati Chanchani, Divya S Khurana
Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29600549/phenotypes-genotypes-and-the-management-of-paroxysmal-movement-disorders
#12
REVIEW
Laura Silveira-Moriyama, Stjepana Kovac, Manju A Kurian, Henry Houlden, Andrew J Lees, Matthew C Walker, Emmanuel Roze, Alex R Paciorkowski, Jonathan W Mink, Thomas T Warner
As a consequence of the genomic revolution, a large number of publications describing paroxysmal movement disorders have been published in the last few years, shedding light on their molecular pathology. Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis...
June 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29554219/prrt2-controls-neuronal-excitability-by-negatively-modulating-na-channel-1-2-1-6-activity
#13
Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi, Alicia Rubio, Antonio Gambardella, Thierry Nieus, Vania Broccoli, Anna Fassio, Pietro Baldelli, Anna Corradi, Federico Zara, Fabio Benfenati
See Lerche (doi:10.1093/brain/awy073) for a scientific commentary on this article.Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous group of familial paroxysmal neurological disorders that include seizures with onset in the first year of life (benign familial infantile seizures), paroxysmal kinesigenic dyskinesia or a combination of both. Most of the PRRT2 mutations are loss-of-function leading to haploinsufficiency and 80% of the patients carry the same frameshift mutation (c...
April 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29454195/chrna4-variant-causes-paroxysmal-kinesigenic-dyskinesia-and-genetic-epilepsy-with-febrile-seizures-plus
#14
Yong-Li Jiang, Fang Yuan, Ying Yang, Xiao-Long Sun, Lu Song, Wen Jiang
PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy are thought to have a shared genetic etiology. PRRT2 has been identified as a causative gene of both disorders. In this study, we aim to explore the potential novel causative gene in a PRRT2-negative family with three individuals diagnosed with PKD or genetic epilepsy with febrile seizures plus (GEFS+). METHODS: Clinical data were collected from all the affected and unaffected members of a PKD/GEFS+ family...
March 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29396943/paroxysmal-kinesigenic-dyskinesia
#15
Jaya Shankar Kaushik, Kiran Bala, Rachana Dubey
No abstract text is available yet for this article.
January 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29381887/myotonia-congenita-can-be-mistaken-as-paroxysmal-kinesigenic-dyskinesia
#16
Aryun Kim, Mihee Jang, Han-Joon Kim, Yoon Kim, Dae-Seong Kim, Jin-Hong Shin, Beomseok Jeon
No abstract text is available yet for this article.
January 2018: Journal of Movement Disorders
https://www.readbyqxmd.com/read/29356177/proline-rich-transmembrane-protein-2-negative-paroxysmal-kinesigenic-dyskinesia-clinical-and-genetic-analyses-of-163-patients
#17
Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang, Xiao-Meng Yin, Mei Zhang, Wei-Guo Tang, Xiao-Rong Liu, Bei-Sha Tang, Sheng-Di Chen, Li Cao
BACKGROUND: Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal dyskinesia. Approximately half of the cases of paroxysmal kinesigenic dyskinesia worldwide are attributable to proline-rich transmembrane protein 2 mutations. OBJECTIVE: The objective of this study was to investigate potential causative genes and clinical characteristics in proline-rich transmembrane protein 2-negative patients with paroxysmal kinesigenic dyskinesia. METHODS: We analyzed clinical manifestations and performed exome sequencing in a cohort of 163 proline-rich transmembrane protein 2-negative probands, followed by filtering data with a paroxysmal movement disorders gene panel...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29351621/familial-paroxysmal-kinesigenic-dyskinesia-is-associated-with-mutations-in-the-kcna1-gene
#18
Xiao-Meng Yin, Jing-Han Lin, Li Cao, Tong-Mei Zhang, Sheng Zeng, Kai-Lin Zhang, Wo-Tu Tian, Zheng-Mao Hu, Nan Li, Jun-Ling Wang, Ji-Feng Guo, Ruo-Xi Wang, Kun Xia, Zhuo-Hua Zhang, Fei Yin, Jing Peng, Wei-Ping Liao, Yong-Hong Yi, Jing-Yu Liu, Zhi-Xian Yang, Zhong Chen, Xiao Mao, Xin-Xiang Yan, Hong Jiang, Lu Shen, Sheng-Di Chen, Li-Ming Zhang, Bei-Sha Tang
No abstract text is available yet for this article.
February 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29334840/transcallosal-conduction-in-paroxysmal-kinesigenic-dyskinesia
#19
Tayfun Kasikci, Semai Bek, Guray Koc, Mehmet Yucel, Yasar Kutukcu, Zeki Odabasi
OBJECTIVES: Detecting whether a possible disequilibrium between the excitatory and inhibitory interhemispheric interactions in paroxysmal kinesigenic dyskinesia (PKD) exists. METHODS: This study assessed measures of motor threshold, motor evoked potential latency, the cortical silent period, the ipsilateral silent period and the transcallosal conduction time (TCT) in PKD patients. Data were compared between the clinically affected hemisphere (aH) and the fellow hemisphere (fH)...
December 2017: Somatosensory & Motor Research
https://www.readbyqxmd.com/read/29285950/prrt2-mutations-in-a-cohort-of-chinese-families-with-paroxysmal-kinesigenic-dyskinesia-and-genotype-phenotype-correlation-reanalysis-in-literatures
#20
REVIEW
Guohua Zhao, Xiaomin Liu, Qiong Zhang, Kang Wang
PURPOSE OF THE STUDY: Though rare, children are susceptible to paroxysmal dyskinesias such as paroxysmal kinesigenic dyskinesia, and infantile convulsions and choreoathetosis. Recent studies showed that the cause of paroxysmal kinesigenic dyskinesia or infantile convulsions and choreoathetosis could be proline-rich transmembrane protein 2 (PRRT2) gene mutations. MATERIAL AND METHODS: This study analysed PRRT2 gene mutations in 51 families with paroxysmal kinesigenic dyskinesia or infantile convulsions and choreoathetosis by direct sequencing...
August 2018: International Journal of Neuroscience
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