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paroxysmal dyskinesia

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https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#1
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...
November 28, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27874491/movement-disorders-in-multiple-sclerosis-and-their-treatment
#2
Günther Deuschl
Hyperkinetic movement disorders such as tremors are not uncommon in patients with multiple sclerosis (MS). The classical feature is intention tremor, whereas rest tremors appear not to occur. Treatment is mainly invasive, with options of Gamma Knife surgery, thalamotomy or deep brain stimulation depending on individual circumstances. Deep brain stimulation is the only option for patients who require a bilateral intervention. All treatment recommendations have only low evidence. Tremors can also be cured spontaneously by a subsequent strategic MS lesion...
December 2016: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/27823718/paroxysmal-dyskinesia-on-waking-two-case-reports
#3
Qian Guo, Yingxue Yang, Yicong Lin, Liping Li, Shuqin Zhan, Aihua Liu, Lehong Gao, Hua Lin, Yuping Wang
No abstract text is available yet for this article.
September 2016: Sleep Medicine
https://www.readbyqxmd.com/read/27801696/changes-in-hemodynamic-response-patterns-in-motor-cortices-measured-by-task-based-functional-magnetic-resonance-imaging-in-patients-with-moyamoya-disease
#4
Peng-Gang Qiao, Zhi-Wei Zuo, Cong Han, Juan Zhou, Hong-Tao Zhang, Lian Duan, Tianyi Qian, Gong-Jie Li
OBJECTIVE: We aimed to study the value of blood oxygen level-dependent functional magnetic resonance imaging (BOLD-fMRI) in assessing cerebral hemodynamic changes for moyamoya disease (MMD). METHODS: We recruited 15 healthy volunteers, 15 patients with MMD without dyskinesia, and 30 patients with MMD who experienced paroxysmal limb dyskinesia. The BOLD-fMRI scans were obtained during grasping motions of the left or right hand. Hemodynamic response curves in the primary motor cortices were generated...
October 31, 2016: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/27784836/a-presumptive-case-of-gluten-sensitivity-in-a-border-terrier-a-multisystem-disorder
#5
M Lowrie, M Hadjivassiliou, D S Sanders, O A Garden
Paroxysmal gluten-sensitive dyskinesia (previously termed canine epileptoid cramping syndrome) is a condition of Border terriers in which the leading manifestation is neurological. The authors describe a case they believe to represent the first report of a Border terrier with a combination of neurological signs, atopy, positive serological results for anti-transglutaminase 2 (TG2 IgA) and anti-gliadin (AGA IgG) antibodies, and signs suggestive of gastrointestinal disease with pathological changes in the gastrointestinal tract-seemingly responsive to a gluten-free diet...
October 26, 2016: Veterinary Record
https://www.readbyqxmd.com/read/27734647/paroxysmal-kinesigenic-dyskinesia
#6
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
https://www.readbyqxmd.com/read/27719843/functional-jerks-tics-and-paroxysmal-movement-disorders
#7
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
https://www.readbyqxmd.com/read/27567911/homozygous-kcnma1-mutation-as-a-cause-of-cerebellar-atrophy-developmental-delay-and-seizures
#8
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
https://www.readbyqxmd.com/read/27567459/paroxysmal-movement-disorders-an-update
#9
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
https://www.readbyqxmd.com/read/27515699/abnormal-somatosensory-synchronization-in-patients-with-paroxysmal-kinesigenic-dyskinesia-a-magnetoencephalographic-study
#10
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)
https://www.readbyqxmd.com/read/27449084/aberrant-transcriptional-networks-in-step-wise-neurogenesis-of-paroxysmal-kinesigenic-dyskinesia-induced-pluripotent-stem-cells
#11
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
https://www.readbyqxmd.com/read/27351150/paroxysmal-exercise-induced-dyskinesias-caused-by-glut1-deficiency-syndrome
#12
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
https://www.readbyqxmd.com/read/27330574/cutaneous-and-mixed-nerve-silent-period-recordings-in-symptomatic-paroxysmal-kinesigenic-dyskinesia
#13
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
https://www.readbyqxmd.com/read/27280699/paroxysmal-nonkinesigenic-dyskinesias-responsive-to-carbamazepine-in-fahr-syndrome-a-case-report
#14
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
https://www.readbyqxmd.com/read/27250207/atypical-manifestations-in-glut1-deficiency-syndrome
#15
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
https://www.readbyqxmd.com/read/27240912/natural-history-of-canine-paroxysmal-movement-disorders-in-labrador-retrievers-and-jack-russell-terriers
#16
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
https://www.readbyqxmd.com/read/27173777/novel-locus-for-paroxysmal-kinesigenic-dyskinesia-mapped-to-chromosome-3q28-29
#17
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
https://www.readbyqxmd.com/read/27172900/prrt2-mutations-lead-to-neuronal-dysfunction-and-neurodevelopmental-defects
#18
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
https://www.readbyqxmd.com/read/27159584/expanding-the-genetic-spectrum-of-paroxysmal-dyskinesias
#19
REVIEW
Roberto Erro
No abstract text is available yet for this article.
July 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27123484/paroxysmal-hypnogenic-dyskinesia-is-associated-with-mutations-in-the-prrt2-gene
#20
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
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