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Paroxysmal non kinesigenic dyskinesia

Hong-Fu Li, Liqin Yang, Dazhi Yin, Wan-Jin Chen, Gong-Lu Liu, Wang Ni, Ning Wang, Wenwen Yu, Zhi-Ying Wu, Zheng Wang
INTRODUCTION: The pathophysiologic mechanism of paroxysmal kinesigenic dyskinesia (PKD) is largely unclear. Basal ganglia-thalamo-cortical circuit involvement is thought to underlie PKD pathophysiology. However, microstructural alternations in the motor circuit of PKD require further elucidation. METHODS: Diffusion tensor imaging and high-resolution T1-weighted imaging were performed on 30 PKD patients (15 PRRT2 carriers, 15 PRRT2 non-carriers) and 15 matched healthy controls...
January 2, 2019: Parkinsonism & related Disorders
Yo-Tsen Liu, Yi-Chieh Chen, Shang-Yeong Kwan, Chien-Chen Chou, Hsiang-Yu Yu, Der-Jen Yen, Kwong-Kum Liao, Wei-Ta Chen, Yung-Yang Lin, Rou-Shayn Chen, Kang-Yang Jih, Shu-Fen Lu, Yu-Te Wu, Po-Shan Wang, Fu-Jung Hsiao
Paroxysmal kinesigenic dyskinesia (PKD) is conventionally regarded as a movement disorder (MD) and characterized by episodic hyperkinesia by sudden movements. However, patients of PKD often have sensory aura and respond excellently to antiepileptic agents. PRRT2 mutations, the most common genetic etiology of PKD, could cause epilepsy syndromes as well. Standing in the twilight zone between MDs and epilepsy, the pathogenesis of PKD is unclear. Gamma oscillations arise from the inhibitory interneurons which are crucial in the thalamocortical circuits...
2018: Frontiers in Neurology
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
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
S Pellegrin, G Cantalupo, R Opri, B Dalla Bernardina, F Darra
BACKGROUND: A growing number of studies have disclosed the myriad of features that can suggest the diagnosis of a Glucose-transporter-1 deficiency (GLUT1D). The occurrence of paroxysmal movement disorders such as exercise-induced dystonia and non-kinesigenic dyskinesia, received considerable emphasis, while limited attention has been paid to other paroxysmal phenomena, as transitory neurological disorders. These paroxysmal events are roughly and variably described as limb weakness, hemiparesis or ataxia...
May 2017: European Journal of Paediatric Neurology: EJPN
Jiří Týč, Lucie Novotná, Priscilla Peña-Diaz, Dmitri A Maslov, Julius Lukeš
Mitochondrial ribosomes evolved from prokaryotic ribosomes, with which they therefore share more common features than with their counterparts in the cytosol. Yet, mitochondrial ribosomes are highly diverse in structure and composition, having undergone considerable changes, including reduction of their RNA component and varying degree of acquisition of novel proteins in various phylogenetic lineages. Here, we present functional analysis of three putative mitochondrial ribosome-associated proteins (RSM22, mtYsxC and PNKD-like) in Trypanosoma brucei, originally identified by database mining...
May 2017: Mitochondrion
Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P O'Brien
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement...
January 2017: Neurogenetics
A Méneret, E Roze
Paroxysmal movement disorders comprise both paroxysmal dyskinesia, characterized by attacks of dystonic and/or choreic movements, and episodic ataxia, defined by attacks of cerebellar ataxia. They may be primary (familial or sporadic) or secondary to an underlying cause. They can be classified according to their phenomenology (kinesigenic, non-kinesigenic or exercise-induced) or their genetic cause. The main genes involved in primary paroxysmal movement disorders include PRRT2, PNKD, SLC2A1, ATP1A3, GCH1, PARK2, ADCY5, CACNA1A and KCNA1...
August 2016: Revue Neurologique
Aditya Kumar, Anna Szekely, Bahman Jabbari
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare chronic disorder characterized by intermittent, non-movement-related involuntary movements. The response to currently available therapies is inconsistent and temporary. We describe here a patient with infantile-onset PNKD who failed a number of pharmaceutical agents used alone or in combination. Treatment with oxcarbazepine resulted in a substantial reduction in the frequency and severity of episodes. The patient has been followed for 4 years now, and the outcome of treatment is consistently favorable...
July 2016: Clinical Neuropharmacology
Feng Li, Zhong-Dong Lin, Ying Hu, Wei Li, Chao-Chao Xue, Neha D Poonit
PURPOSE: To evaluate the efficacy and tolerability of lamotrigine monotherapy in children with paroxysmal kinesigenic dyskinesia. METHOD: A sample of eighteen children aged between 2 years old and 13 years old who fulfilled the diagnostic criteria from January 2008 to December 2014 was enrolled, they received video electroencephalography, brain image scans and proline-rich transmembrane protein 2 genetic tests. Children with known or suspected diseases which would cause secondary paroxysmal kinesigenic dyskinesia were excluded...
April 2016: Seizure: the Journal of the British Epilepsy Association
Axel Weber, Jonas Kreth, Ulrich Müller
BACKGROUND: Mutations in PRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC). CASE PRESENTATION: A previously not recognized intronic PRRT2 mutation (c.880-35G > A; p.S294Lfs*29) was found in an 18 month old girl with IC and in her mother with classical presentation of PKD. The mutation results in a novel splice acceptor site in intron 2 of PRRT2. Due to frameshift and a subsequent premature stop-codon the resulting transcript appears to render the PRRT2 protein non/dysfunctional and is the likely cause of disease in this family...
2016: BMC Medical Genetics
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann, Tom Warner, Paul Jarman, Mike Hanna, Manju A Kurian, Kailash P Bhatia, Henry Houlden
Paroxysmal dyskinesia can be subdivided into three clinical syndromes: paroxysmal kinesigenic dyskinesia or choreoathetosis, paroxysmal exercise-induced dyskinesia, and paroxysmal non-kinesigenic dyskinesia. Each subtype is associated with the known causative genes PRRT2, SLC2A1 and PNKD, respectively. Although separate screening studies have been carried out on each of the paroxysmal dyskinesia genes, to date there has been no large study across all genes in these disorders and little is known about the pathogenic mechanisms...
December 2015: Brain: a Journal of Neurology
Xiao-Jun Huang, Tian Wang, Jun-Ling Wang, Xiao-Li Liu, Xiang-Qian Che, Jin Li, Xiao Mao, Mei Zhang, Guang-Hui Bi, Li Wu, Yu Zhang, Jing-Yi Wang, Jun-Yi Shen, Bei-Sha Tang, Li Cao, Sheng-Di Chen
OBJECTIVE: We aimed to investigate the clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) in a large population and to analyze the genotype-phenotype correlation of PKD. METHODS: We analyzed clinical manifestations and conducted PRRT2 screening in 110 patients with PKD. Clinical data were compared between 91 probands with and without PRRT2 mutations. RESULTS: Among the enrolled participants (45 from 26 families, 65 sporadic cases), 8 PRRT2 mutations were detected in 20 PKD families (76...
November 3, 2015: Neurology
Elena Peila, Paolo Mortara, Alessandro Cicerale, Lorenzo Pinessi
We report a case of a 15-year-old boy presenting with sudden attacks of hyperkinetic movements of the limbs, trunk and neck. Clinical features were suggestive of paroxysmal non-kinesigenic dyskinesia, but the elevated antistreptolysin O antibody titre and history of recurrent upper airways infection led us to consider a post-streptococcal syndrome as a possible diagnosis. The patient started therapy with benzathine penicillin, sodium valproate and clonazepam without any significant improvement. A successive psychiatric assessment revealed the presence of a psychogenic movement disorder...
March 20, 2015: BMJ Case Reports
Neera Chaudhry, Vinod Puri, Yogesh Patidar, Geeta A Khwaja
A 13-year-old boy presented with recurrent episodes of sudden brief posturing of the right upper and lower limbs accompanied by transient inability to speak and a tendency to smile which would sometimes break into laughter. Awareness was retained during the attack, and there was no associated emotional abnormality. The events were precipitated by walking and occurred several times in a day. The laughter was pathological in nature, and the abnormal posturing was akin to 'paroxysmal kinesigenic dyskinesia' (PKD)...
2013: Epilepsy & Behavior Case Reports
J Extreia, I Monteiro, A Ferreira, S Rocha
Paroxysmal dyskinesias are movement disorders characterized by sudden episodes of involuntary movements. They are divided into kinesigenic, non-kinesigenic, and exercise-induced dyskinesias. Emphasis is made on the importance of the clinical history and fully describing the episodes in the differential diagnosis. The case is presented of a twelve year-old female with paroxysmal episodes of tongue torsion and dystonic postures of the upper limbs when start running or descending stairs and in the beginning of physical exercise, which ceased spontaneously seconds later...
January 2015: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Shuli Liang, Xiaoman Yu, Shaohui Zhang, Junli Tai
BACKGROUND: Paroxysmal dyskinesia is a rare neurological disorder characterized by paroxysmal movement disorders. Paroxysmal movement disorders include kinesigenic choreoathetosis, nonkinesigenic choreoathetosis or dyskinesia (PNKD), exercise-induced choreoathetosis, and hypnogenic paroxysmal dystonia. There have been some sporadic reports of PNKD occurrences in Chinese Mainland, but none has been reported on familial PNKD. Proband and methods A 32 years old male admitted to the First Affiliated Hospital of Chinese PLA General Hospital, Beijing, China in 2009 with recurrent limb involuntary movements spanning over 30 years was diagnosed with PNKD...
January 21, 2015: Brain Research
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia
Paroxysmal movement disorders are a heterogeneous group of conditions manifesting as episodic dyskinesia with sudden onset and lasting a variable duration. Based on the difference of precipitating factors, three forms are clearly recognized, namely, paroxysmal kinesigenic (PKD), non-kinesigenic (PNKD), and exercise induced (PED). The elucidation of the genetic cause of various forms of paroxysmal dyskinesia has led to better clinical definitions based on genotype-phenotype correlations in the familial forms...
August 2014: Movement Disorders: Official Journal of the Movement Disorder Society
Xia Nan Guo, Qiang Lu, Xiang Qin Zhou, Qing Liu, Xue Zhang, Li-Ying Cui
Mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Other paroxysmal disorders like febrile seizures, migraine, paroxysmal exercise-induced dyskinesia, and paroxysmal non-kinesigenic dyskinesia have also been shown to be associated with this gene. We re-evaluated PRRT2 mutations and genetic-clinical correlations in additional cases with PKD/ICCA and other paroxysmal disorders...
May 2014: Journal of Neurology
Jinyoung Youn, Ji Sun Kim, Munhyang Lee, Jeehun Lee, Hakjae Roh, Chang-Seok Ki, Jin Whan Choa
BACKGROUND AND PURPOSE: Given the diverse phenotypes including combined non-dyskinetic symptoms in patients harboring mutations of the gene encoding proline-rich transmembrane protein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKD patients with PRRT2 mutations. METHODS: Familial and sporadic PKD patients were enrolled and PRRT2 gene sequencing was performed...
January 2014: Journal of Clinical Neurology
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