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paroxysmal dyskinesia

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https://www.readbyqxmd.com/read/28090678/the-epileptic-and-nonepileptic-spectrum-of-paroxysmal-dyskinesias-channelopathies-synaptopathies-and-transportopathies
#1
REVIEW
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano
Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of disorders as a result of ion channel dysfunction. This proposition was primarily based on the discovery of mutations in ion channels, which caused other episodic neurological disorders such as epilepsy and migraine and also supported by the frequent association between paroxysmal dyskinesias and epilepsy. However, the discovery of the genes responsible for the 3 classic forms of paroxysmal dyskinesias disproved this ion channel theory...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28089944/rsm22-mtysxc-and-pnkd-like-proteins-are-required-for-mitochondrial-translation-in-trypanosoma-brucei
#2
Jiří Týč, Lucie Novotná, Priscila 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...
January 12, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28042592/paroxysmal-nonepileptic-events-in-glut1-deficiency
#3
Joerg Klepper, Baerbel Leiendecker, Christin Eltze, Nicole Heussinger
View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events...
November 2016: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28039521/echs1-deficiency-associated-paroxysmal-exercise-induced-dyskinesias-case-presentation-and-initial-benefit-of-intervention
#4
Abhimanyu Mahajan, Jules Constantinou, Christos Sidiropoulos
Paroxysmal exercise-induced dyskinesias (PED) are paroxysmal dyskinesias which manifest as dystonic movements brought on by sustained exercise. ECHS1 deficiency-induced EID was recently described by Olgiati et al. Our patient is an 8-year-old boy, who presented with intermittent episodes of stiffness and contractions affecting the legs which were always brought on by vigorous exertion. They began with curling of the toes and flexion, followed by stiffening of gait. These episodes were asymmetric, uncomfortable and often began in the left leg, often spreading to the right leg...
December 30, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/28018471/paroxysmal-kinesigenic-dyskinesia-in-a-patient-with-a-prrt2-mutation-and-centrotemporal-spike-discharges-on-electroencephalogram-case-report-of-a-10-year-old-girl
#5
Sun Young Seo, Su Jeong You
Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28007585/the-prrt2-knockout-mouse-recapitulates-the-neurological-diseases-associated-with-prrt2-mutations
#6
Caterina Michetti, Enrico Castroflorio, Ivan Marchionni, Nicola Forte, Bruno Sterlini, Francesca Binda, Floriana Fruscione, Pietro Baldelli, Flavia Valtorta, Federico Zara, Anna Corradi, Fabio Benfenati
Heterozygous and rare homozygous mutations in PRoline-Rich Transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders including epilepsy, kinesigenic dyskinesia episodic ataxia and migraine. Most of the mutations lead to impaired PRRT2 expression and/or function. Recently, an important role for PRTT2 in the neurotransmitter release machinery, brain development and synapse formation has been uncovered. In this work, we have characterized the phenotype of a mouse in which the PRRT2 gene has been constitutively inactivated (PRRT2 KO)...
December 20, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#7
Sandra Juozapaite, Ruta Praninskiene, Birute Burnyte, Laima Ambrozaityte, Birute Skerliene
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis...
December 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27920401/a-common-prrt2-mutation-in-familial-paroxysmal-kinesigenic-dyskinesia-in-hong-kong-a-case-series-of-16-patients
#8
C Y Law, W L Yeung, Y F Cheung, H F Chan, E Fung, J Hui, I Ok Yung, Y P Yuen, A Ok Chan, C W Lam
No abstract text is available yet for this article.
December 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#9
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
#10
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
#11
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
#12
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
#13
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...
December 3, 2016: Veterinary Record
https://www.readbyqxmd.com/read/27734647/paroxysmal-kinesigenic-dyskinesia
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
August 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27351150/paroxysmal-exercise-induced-dyskinesias-caused-by-glut1-deficiency-syndrome
#20
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
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