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https://www.readbyqxmd.com/read/29454195/chrna4-variant-causes-paroxysmal-kinesigenic-dyskinesia-and-genetic-epilepsy-with-febrile-seizures-plus
#1
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...
February 10, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29424456/characterization-of-paroxysmal-gluten-sensitive-dyskinesia-in-border-terriers-using-serological-markers
#2
M Lowrie, O A Garden, M Hadjivassiliou, D S Sanders, R Powell, L Garosi
BACKGROUND: Paroxysmal gluten-sensitive dyskinesia (PGSD) in border terriers (BTs) results from an immunologic response directed against transglutaminase (TG)2 and gliadin. Recent evidence suggests that PGSD is only one aspect of a range of possible manifestations of gluten sensitivity in the breed. HYPOTHESIS/OBJECTIVES: Gluten sensitivity in BTs is a heterogeneous disease process with a diverse clinical spectrum; to characterize the phenotype of PGSD using TG2 and gliadin autoantibodies as diagnostic markers...
February 9, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29396943/paroxysmal-kinesigenic-dyskinesia
#3
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
#4
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
#5
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...
January 22, 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
#6
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.
January 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29346777/prrt2-regulates-synaptic-fusion-by-directly-modulating-snare-complex-assembly
#7
Jeff Coleman, Ouardane Jouannot, Sathish K Ramakrishnan, Maria N Zanetti, Jing Wang, Vincenzo Salpietro, Henry Houlden, James E Rothman, Shyam S Krishnakumar
Mutations in proline-rich transmembrane protein 2 (PRRT2) are associated with a range of paroxysmal neurological disorders. PRRT2 predominantly localizes to the pre-synaptic terminals and is believed to regulate neurotransmitter release. However, the mechanism of action is unclear. Here, we use reconstituted single vesicle and bulk fusion assays, combined with live cell imaging of single exocytotic events in PC12 cells and biophysical analysis, to delineate the physiological role of PRRT2. We report that PRRT2 selectively blocks the trans SNARE complex assembly and thus negatively regulates synaptic vesicle priming...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29334840/transcallosal-conduction-in-paroxysmal-kinesigenic-dyskinesia
#8
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)...
January 15, 2018: Somatosensory & Motor Research
https://www.readbyqxmd.com/read/29330545/de-novo-bk-channel-variant-causes-epilepsy-by-affecting-voltage-gating-but-not-ca2-sensitivity
#9
Xia Li, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M Snoeijen-Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein Willemsen, Qing Kenneth Wang
Epilepsy is one of the most common neurological diseases and it causes profound morbidity and mortality. We identified the first de novo variant in KCNMA1 (c.2984 A > G (p.(N995S)))-encoding the BK channel-that causes epilepsy, but not paroxysmal dyskinesia, in two independent families. The c.2984 A > G (p.(N995S)) variant markedly increased the macroscopic potassium current by increasing both the channel open probability and channel open dwell time. The c.2984 A > G (p.(N995S)) variant did not affect the calcium sensitivity of the channel...
January 12, 2018: European Journal of Human Genetics: EJHG
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
#10
Guohua Zhao, Xiaomin Liu, Qiong Zhang, Kang Wang
PURPOSE OF THE STUDY: Though rare, children are susceptible to paroxysmal dyskinesias (PxDs) such as paroxysmal kinesigenic dyskinesia (PKD), and infantile convulsions and choreoathetosis (ICCA, also termed PKD/IC). PKD is characterized by recurrent attacks of involuntary movements mostly starting around puberty, and PKD/IC also presents with clusters of non-febrile seizures at ages between 3 and 12 months in addition to symptoms of PKD. Recent studies showed that the cause of PKD or PKD/IC could be proline-rich transmembrane protein 2 (PRRT2) gene mutations...
December 29, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29282340/-from-involuntary-movements-to-movement-disorders
#11
Toshio Fukutake
Apart from the term 'involuntary movements', the term 'movement disorders' encompasses not only classical hyperkinesias but also hypokinesias including catalepsy or apraxia. It enables us to understand abnormal movements by their phenomena instead of by their localization. To advance the grasping of movement disorders, we discuss the clinical and pathophysiological features of abnormal movements in catatonia/catalepsy, anti-NMDAR encephalitis, paroxysmal dyskinesias, stiff person/leg syndrome, corticobasal degeneration/syndrome, and hysteria...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29276650/paroxysmal-kinesigenic-dyskinesia
#12
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
#13
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)...
November 22, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29148542/prrt2-dependent-dyskinesia-cerebellar-paroxysmal-and-persistent
#14
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.
November 17, 2017: Cell Research
https://www.readbyqxmd.com/read/29132464/-clinical-manifestations-and-genetic-diagnosis-of-paroxysmal-kinesigenic-dyskinesia
#15
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/29103325/myofibrillogenesis-regulator-1-mr-1-a-potential-therapeutic-target-for-cancer-and-pnkd
#16
Junxia Wang, Wuli Zhao, Hong Liu, Hongwei He, Rongguang Shao
Human myofibrillogenesis regulator 1 (MR-1) is a functional gene also known as paroxysmal nonkinesigenic dyskinesia (PNKD). It is localised on human chromosome 2q35 and three different isomers, MR-1L, MR-1M and MR-1S, are formed by alternative splicing. MR-1S promotes cardiac hypertrophy and is closely related to cancer. MR-1S is overexpressed in haematologic and solid malignancies, such as hepatoma, breast cancer and chronic myelogenous leukaemia. MR-1S causes disordered cell differentiation, initiates malignant transformation and accelerates metastasis...
November 15, 2017: Journal of Drug Targeting
https://www.readbyqxmd.com/read/29093066/pyruvate-dehydrogenase-complex-e2-deficiency-causes-paroxysmal-exercise-induced-dyskinesia
#17
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson
No abstract text is available yet for this article.
November 1, 2017: Neurology
https://www.readbyqxmd.com/read/29056747/prrt2-deficiency-induces-paroxysmal-kinesigenic-dyskinesia-by-regulating-synaptic-transmission-in-cerebellum
#18
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...
October 20, 2017: Cell Research
https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#19
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28870817/-prrt2-mutation-and-infantile-convulsions
#20
M Mathot, D Lederer, S Gerard, E Gueulette, M Deprez
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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