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paroxysmal dyskinesia

Ritwika Mallik, Sitansu Sekhar Nandi
We present a case of paroxysmal kinesigenic dyskinesia (PKD) in a 21 year old girl, with no family history of similar episodes. The episodes were short (lasting less than a minute), frequent, occurring 5 to 10 times a day, self-limiting dystonia of her right upper limb precipitated by sudden movement. She also had a past history of partial seizures with secondary generalization in her childhood. She responded to phenytoin, with cessation of events after 1 month of treatment. This case impresses upon the hypothesis stating the association between seizure activity and PKD probably due to a common foci of origin...
April 2016: Journal of the Association of Physicians of India
Y E M Dreissen, D C Cath, M A J Tijssen
Functional jerks are among the most common functional movement disorders. The diagnosis of functional jerks is mainly based on neurologic examination revealing specific positive clinical signs. Differentiation from other jerky movements, such as tics, organic myoclonus, and primary paroxysmal dyskinesias, can be difficult. In support of a functional jerk are: acute onset in adulthood, precipitation by a physical event, variable, complex, and inconsistent phenomenology, suggestibility, distractibility, entrainment and a Bereitschaftspotential preceding the movement...
2017: Handbook of Clinical Neurology
Brahim Tabarki, Nabil AlMajhad, Amal AlHashem, Ranad Shaheen, Fowzan S Alkuraya
Dominant gain-of-function mutations of the KCNMA1 gene, encoding the pore-forming subunit of the large conductance voltage- and Ca(2+)-activated K+ channel, have been described in a few patients with the syndrome of epilepsy, paroxysmal dyskinesias and developmental delay. In this report, we describe the loss-of-function phenotype of this newly described disease gene. In two siblings from a consanguineous family with epilepsy, developmental delay and severe cerebellar atrophy, combined exome/autozygome analysis identified a homozygous frameshift duplication in KCNMA1 (c...
November 2016: Human Genetics
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
Fu-Jung Hsiao, Wan-Yu Hsu, Wei-Ta Chen, Rou-Shayn Chen, Yung-Yang Lin
Paroxysmal kinesigenic dyskinesia (PKD) is a rare group of hyperkinetic movement disorders characterized by brief attacks of choreoathetosis or dystonia. To clarify the alterations of the functional connectivity within the somatosensory network in PKD patients, magnetoencephalographic (MEG) responses to paired median-nerve electrical stimulation were recorded in 10 PKD patients treated by carbamazepine or oxcarbamazepine and 22 age-matched controls. In patients, MEG recordings were obtained during drug-on and -off periods...
August 11, 2016: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
Chun Li, Yu Ma, Kunshan Zhang, Junjie Gu, Fan Tang, Shengdi Chen, Li Cao, Siguang Li, Ying Jin
Paroxysmal kinesigenic dyskinesia (PKD) is an episodic movement disorder with autosomal-dominant inheritance and marked variability in clinical manifestations.Proline-rich transmembrane protein 2 (PRRT2) has been identified as a causative gene of PKD, but the molecular mechanism underlying the pathogenesis of PKD still remains a mystery. The phenotypes and transcriptional patterns of the PKD disease need further clarification. Here, we report the generation and neural differentiation of iPSC lines from two familial PKD patients with c...
July 18, 2016: Oncotarget
Marie Mongin, Nicolas Mezouar, Pauline Dodet, Marie Vidailhet, Emmanuel Roze
BACKGROUND: Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. PHENOMENOLOGY SHOWN: Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. EDUCATIONAL VALUE: Proper identification of the paroxysmal events and early diagnosis is important since the disease is potentially treatable...
2016: Tremor and Other Hyperkinetic Movements
Julien Cogez, Olivier Etard, Nathalie Derache, Gilles Defer
OBJECTIVE: The underlying neurophysiologic mechanism responsible for secondary paroxysmal kinesigenic dyskinesia (PKD) is still unclear. Here, we study the pathogenesis of PKD in two patients with a demyelinating lesion in the spinal cord. METHODS: Electromyogram recordings from affected arms of two patients with spinal cord lesions presenting PKD were compared with our laboratory standards. The cutaneous silent period (CuSP), mixed nerve silent period (MnSP) and coincidence period (CiP), defined as the common period between the CuSP and MnSP, were recorded...
2016: Open Neurology Journal
Verónica Montilla-Uzcátegui, Hilarión Araujo-Unda, Anilú Daza-Restrepo, Michel Sáenz-Farret, Federico Micheli
OBJECTIVE: This study aimed to report the case of a patient with paroxysmal nonkinesigenic dyskinesias and Fahr syndrome who had a marked response to carbamazepine. METHODS: We present the case of a 57-year-old female patient with episodes of paroxysmal choreoathetoid dyskinesias in the oromandibular region and distal region of upper and lower extremities, with fluctuating dystonic postures in the same distribution; duration was variable ranging from 30 minutes to 3 hours...
September 2016: Clinical Neuropharmacology
V De Giorgis, C Varesio, C Baldassari, E Piazza, S Olivotto, J Macasaet, U Balottin, P Veggiotti
Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations...
August 2016: Journal of Child Neurology
Mark Lowrie, Laurent Garosi
Delineation of the typical disease progression in canine paroxysmal dyskinesia (PD) may assist in evaluating therapeutic agents during clinical trials. Our objective was to establish the natural disease course in a group of dogs diagnosed with PD that received no medication. Fifty-nine dogs (36 Labradors, 23 JRTs) with clinically confirmed PD and a follow-up of ≥3 years were retrospectively reviewed. Dogs with PD had a young onset, were triggered by startle or sudden movements, and had a male bias (75%) with the majority being entire sample population...
July 2016: Veterinary Journal
Ding Liu, Yumiao Zhang, Yu Wang, Chanjuan Chen, Xin Li, Jinxia Zhou, Zhi Song, Bo Xiao, Kevin Rasco, Feng Zhang, Shu Wen, Guoliang Li
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent and brief attacks of dystonia or chorea precipitated by sudden movements. It can be sporadic or familial. Proline-Rich Transmembrane Protein 2 (PRRT2) has been shown to be a common causative gene of PKD. However, less than 50% of patients with primary PKD harbor mutations in PRRT2. The aim of this study is to use eight families with PKD to identify the pathogenic PRRT2 mutations, or possible novel genetic cause of PKD phenotypes. After extensive clinical investigation, direct sequencing and mutation analysis of PRRT2 were performed on patients from eight PKD families...
2016: Scientific Reports
Yo-Tsen Liu, Fang-Shin Nian, Wan-Ju Chou, Chin-Yin Tai, Shang-Yeong Kwan, Chien Chen, Pei-Wen Kuo, Po-Hsi Lin, Chin-Yi Chen, Chia-Wei Huang, Yi-Chung Lee, Bing-Wen Soong, Jin-Wu Tsai
Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene cause a wide spectrum of neurological diseases, ranging from paroxysmal kinesigenic dyskinesia (PKD) to mental retardation and epilepsy. Previously, seven PKD-related PRRT2 heterozygous mutations were identified in the Taiwanese population: P91QfsX, E199X, S202HfsX, R217PfsX, R217EfsX, R240X and R308C. This study aimed to investigate the disease-causing mechanisms of these PRRT2 mutations. We first documented that Prrt2 was localized at the pre- and post-synaptic membranes with a close spatial association with SNAP25 by synaptic membrane fractionation and immunostaining of the rat neurons...
May 9, 2016: Oncotarget
Roberto Erro
No abstract text is available yet for this article.
July 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Xiao-Rong Liu, Dan Huang, Jie Wang, Yi-Fan Wang, Hui Sun, Bin Tang, Wen Li, Jin-Xing Lai, Na He, Mei Wu, Tao Su, Heng Meng, Yi-Wu Shi, Bing-Mei Li, Bei-Sha Tang, Wei-Ping Liao
OBJECTIVE: To explore the potential causative genes of paroxysmal hypnogenic dyskinesia (PHD), which was initially considered a subtype of paroxysmal dyskinesia and has been recently considered a form of nocturnal frontal lobe epilepsy (NFLE). METHODS: Eleven patients with PHD were recruited. Mutations in proline-rich region transmembrane protein-2 (PRRT2), myofibrillogenesis regulator 1 (MR-1), solute carrier family 2, member 1 (SLC2A1), calcium-activated potassium channel alpha subunit (KCNMA1), cholinergic receptor, nicotinic, alpha 4 (CHRNA4), cholinergic receptor, nicotinic, beta 2 (CHRNB2), cholinergic receptor, nicotinic, alpha 2 (CHRNA2), and potassium channel subfamily T member 1 (KCNT1) were screened by direct sequencing...
April 2016: Neurol Genet
Hong-Xia Wang, Hong-Fu Li, Gong-Lu Liu, Xiao-Dan Wen, Zhi-Ying Wu
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations. However, over two-third of sporadic PKD patients did not carry anyPRRT2 mutation, suggesting an existence of additional genetic mutations or possible misdiagnosis due to clinical overlap. METHODS: A cohort of 28 Chinese patients clinically diagnosed with sporadic PKD and excluded PRRT2 mutations were recruited...
May 5, 2016: Chinese Medical Journal
Simone Olgiati, Matej Skorvanek, Marialuisa Quadri, Michelle Minneboo, Josja Graafland, Guido J Breedveld, Ramon Bonte, Zeliha Ozgur, Mirjam C G N van den Hout, Kees Schoonderwoerd, Frans W Verheijen, Wilfred F J van IJcken, Hsin Fen Chien, Egberto Reis Barbosa, Hsiu-Chen Chang, Szu-Chia Lai, Tu-Hsueh Yeh, Chin-Song Lu, Yah-Huei Wu-Chou, Anneke J A Kievit, Vladimir Han, Zuzana Gdovinova, Robert Jech, Robert M W Hofstra, George J G Ruijter, Wim Mandemakers, Vincenzo Bonifati
BACKGROUND: ECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The objective of this study was to describe a family with 2 siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. METHODS: Clinical evaluation, MRI imaging, genome-wide linkage, exome sequencing, urine metabolite profiling, and protein expression studies were performed...
July 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Florence C F Chang, Ana Westenberger, Russell C Dale, Martin Smith, Hardev S Pall, Belen Perez-Dueñas, Padraic Grattan-Smith, Robert A Ouvrier, Neil Mahant, Bernadette C Hanna, Matthew Hunter, John A Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G L Morris, Alex Münchau, Detelina Grozeva, Keren J Carss, Lucy Raymond, Manju A Kurian, Christine Klein, Victor S C Fung
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations. METHODS: In 5 of the 7 patients, followed over a period of 9 to 32 years, ADCY5 was sequenced by Sanger sequencing...
July 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Ines Cervigni, Cosimo Prestigio, Silvia Giovedì, Franco Onofri, Elisa Mura, Fabrizia C Guarnieri, Antonella Marte, Marta Orlando, Federico Zara, Anna Fassio, Flavia Valtorta, Pietro Baldelli, Anna Corradi, Fabio Benfenati
Heterozygous 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, suggesting that loss of PRRT2 function may contribute to pathogenesis. We show that PRRT2 is enriched in presynaptic terminals and that its silencing decreases the number of synapses and increases the number of docked synaptic vesicles at rest. PRRT2-silenced neurons exhibit a severe impairment of synchronous release, attributable to a sharp decrease in release probability and Ca(2+) sensitivity and associated with a marked increase of the asynchronous/synchronous release ratio...
April 5, 2016: Cell Reports
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
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