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Paroxysmal kinesigenic dyskinesia

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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
#1
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...
July 15, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/29276650/paroxysmal-kinesigenic-dyskinesia
#16
Martin Paucar, Helena Malmgren, Per Svenningsson
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 ( PRRT2 ) gene. Phenomenology Shown: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette's syndrome. Educational Value: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29167286/a-novel-prrt2-pathogenic-variant-in-a-family-with-paroxysmal-kinesigenic-dyskinesia-and-benign-familial-infantile-seizures
#17
Jacqueline G Lu, Juliet Bishop, Sarah Cheyette, Igor B Zhulin, Su Guo, Nara Sobreira, Steven E Brenner
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequencing has revealed a cluster of pathogenic variants in PRRT2 (proline-rich transmembrane protein), a gene with a function in synaptic regulation that remains poorly understood. Here, we report the discovery of a novel PRRT2 pathogenic variant inherited in an autosomal dominant pattern in a family with PKD and benign familial infantile seizures (BFIS)...
February 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29148542/prrt2-dependent-dyskinesia-cerebellar-paroxysmal-and-persistent
#18
Lieke Kros, Chris I De Zeeuw
In an elegant publication in Cell Research, Tan and colleagues showed that ablation of PRRT2 in cerebellar granule cells is sufficient to induce paroxysmal kinesigenic dyskinesia. PRRT2 turns out to downregulate the presynaptic SNARE complex in granule cell axons, which in turn controls the activity patterns of Purkinje cells, the sole output of the cerebellar cortex.
January 2018: Cell Research
https://www.readbyqxmd.com/read/29132464/-clinical-manifestations-and-genetic-diagnosis-of-paroxysmal-kinesigenic-dyskinesia
#19
Xiao-Ming Zhu, Yu-Hong Gong, Si Lu, Shou-Chao Cheng, Bao-Zhen Yao
The clinical manifestations of five children with paroxysmal kinesigenic dyskinesia (PKD) were retrospectively analyzed and their gene mutations were analyzed by high-throughput sequencing and chromosome microarray. The 5 patients consisted of 4 males and 1 female and the age of onset was 6-9 years. Dyskinesia was induced by sudden turn movement, scare, mental stress, or other factors. These patients were conscious and had abnormal posture of unilateral or bilateral extremities, athetosis, facial muscle twitching, and abnormal body posture...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29056747/prrt2-deficiency-induces-paroxysmal-kinesigenic-dyskinesia-by-regulating-synaptic-transmission-in-cerebellum
#20
Guo-He Tan, Yuan-Yuan Liu, Lu Wang, Kui Li, Ze-Qiang Zhang, Hong-Fu Li, Zhong-Fei Yang, Yang Li, Dan Li, Ming-Yue Wu, Chun-Lei Yu, Juan-Juan Long, Ren-Chao Chen, Li-Xi Li, Lu-Ping Yin, Ji-Wei Liu, Xue-Wen Cheng, Qi Shen, You-Sheng Shu, Kenji Sakimura, Lu-Jian Liao, Zhi-Ying Wu, Zhi-Qi Xiong
Mutations in the proline-rich transmembrane protein 2 (PRRT2) are associated with paroxysmal kinesigenic dyskinesia (PKD) and several other paroxysmal neurological diseases, but the PRRT2 function and pathogenic mechanisms remain largely obscure. Here we show that PRRT2 is a presynaptic protein that interacts with components of the SNARE complex and downregulates its formation. Loss-of-function mutant mice showed PKD-like phenotypes triggered by generalized seizures, hyperthermia, or optogenetic stimulation of the cerebellum...
January 2018: Cell Research
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