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https://www.readbyqxmd.com/read/28427022/stereotypy-of-psychogenic-nonepileptic-seizures
#1
Moshe Herskovitz
Psychogenic nonepileptic seizures (PNES) are defined as paroxysmal episodes in which epileptic semiology features are manifested, without the characteristic concomitant electrical discharges seen in epileptic seizures. Although many studies have dealt with semiologic classification of PNES, most of the studies did not raise the question of consistency of PNES in the same patient. The aim of this study was to measure the degree of consistency of PNES among individual patients. We retrospectively reviewed medical records and video- EEG records of all adult patients who underwent monitoring in our center from August 1st 2013 to May 31st 2015...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28397579/secondary-paroxysmal-dyskinesia-in-multiple-sclerosis-clinical-radiological-features-and-treatment-case-report-of-seven-patients
#2
Ethel Ciampi, Reinaldo Uribe-San-Martín, Jaime Godoy-Santín, Juan Pablo Cruz, Claudia Cárcamo-Rodríguez, Carlos Juri
Secondary paroxysmal dyskinesias (SPDs) are short, episodic, and recurrent movement disorders, classically related to multiple sclerosis (MS). Carbamazepine is effective, but with risk of adverse reactions. We identified 7 patients with SPD among 457 MS patients (1.53%). SPD occurred in face ( n = 1), leg ( n = 2), or arm +leg ( n = 4) several times during the day. Magnetic resonance imaging (MRI) showed new or enhancing lesions in thalamus ( n = 1), mesencephalic tegmentum ( n = 1), and cerebellar peduncles ( n = 5)...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28397578/paroxysmal-kinesigenic-dyskinesia-like-phenotype-in-multiple-sclerosis
#3
Roxana Pop, Stefan Kipfer
In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28352057/paroxysmal-kinesigenic-dyskinesia-as-the-presenting-and-only-manifestation-of-multiple-sclerosis-after-eighteen-months-of-follow-up
#4
Marius Baguma, Michel Ossemann
Other than tremor, movement disorders are uncommon in multiple sclerosis. Among these uncommon clinical manifestations, paroxysmal kinesigenic dyskinesia is the most frequently reported. It is characterized by episodic attacks of involuntary movements that are induced by repetitive or sudden movements, startling noise or hyperventilation. The diagnosis is essentially clinical and based on a good observation of the attacks. It is very easy to misdiagnose it. We describe the case of a young female patient who presented paroxysmal kinesigenic dyskinesia as the first and only clinical manifestation of multiple sclerosis, with no recurrence of attacks nor any other neurologic symptom after eighteen months of follow-up...
March 24, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28341645/paroxysmal-eye-head-movements-in-glut1-deficiency-syndrome
#5
Toni S Pearson, Roser Pons, Kristin Engelstad, Steven A Kane, Michael E Goldberg, Darryl C De Vivo
OBJECTIVE: To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). METHODS: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. RESULTS: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here...
March 24, 2017: Neurology
https://www.readbyqxmd.com/read/28218460/oculogyric-crises-a-review-of-phenomenology-etiology-pathogenesis-and-treatment
#6
REVIEW
Elizabeth J Slow, Anthony E Lang
Oculogyric crises are a rare movement disorder characterized by paroxysmal, conjugate, tonic, usually upwards, deviation of the eyes. Causes for oculogyric crises are limited and include complications of dopamine-receptor blocking medications and neurometabolic disorders affecting dopamine metabolism, suggesting that an underlying hypodopaminergic state is important to the pathogenesis. Mimickers of oculogyric crises exist, and we propose diagnostic criteria to distinguish true oculogyric crises. Recognition of oculogyric crises is important for the diagnosis and appropriate treatment of rare disorders, and an approach to investigations in oculogyric crises is proposed...
February 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28203183/cerebral-venous-thrombosis-in-the-superior-sagittal-sinus-as-a-rare-cause-of-a-paroxysmal-kinetic-tremor
#7
Kei Murao, Shuji Arakawa, Yoshihiko Furuta, Masahiro Shijo, Tetsuro Ago, Takanari Kitazono
Cerebral venous thrombosis (CVT) has a broad spectrum of clinical presentation compared to arterial etiology. Seizure is one of the common symptoms and is more frequent than in other stroke types. Hence, transient neurological symptoms in CVT patients are usually due to epileptic seizures, while transient repetitive movement disorder is extremely rare except as a complication of epilepsy. We report a case of CVT in the superior sagittal sinus with a 1-year history of paroxysmal kinetic tremor without evident epilepsy...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/28190498/classification-of-involuntary-movements-in-dogs-paroxysmal-dyskinesias
#8
REVIEW
Mark Lowrie, Laurent Garosi
Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically normal between episodes. PDs are associated with a broad spectrum of clinical presentations, encompassing various aetiologies...
February 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28186667/thalamocortical-dysconnectivity-in-paroxysmal-kinesigenic-dyskinesia-combining-functional-magnetic-resonance-imaging-and-diffusion-tensor-imaging
#9
Zhiliang Long, Qiang Xu, Huan-Huan Miao, Yang Yu, Mei-Ping Ding, Huafu Chen, Zhi-Rong Liu, Wei Liao
BACKGROUND: Paroxysmal kinesigenic dyskinesia is associated with macrostructural and microstructural abnormalities in the thalamus. OBJECTIVES: To examine functional and structural connectivity of thalamocortical networks in paroxysmal kinesigenic dyskinesia and to further investigate the effect of mutation of the proline-rich transmembrane protein 2 on thalamocortical networks. METHODS: Patients with paroxysmal kinesigenic dyskinesia (n = 20), subdivided into proline-rich transmembrane protein 2-mutated (n = 8) and nonmutated patients (n = 12) and healthy controls (n = 20) underwent resting-state functional MRI and diffusion imaging scan...
April 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28183575/choreoathetotic-syndrome-following-cardiac-surgery
#10
Michela Bisciglia, Frédéric London, Jonathan Hulin, André Peeters, Adrian Ivanoiu, Anne Jeanjean
Movement disorders following heart surgery are very unusual. Post-pump chorea is mainly a pediatric complication of heart surgery, typically manifesting after a latent period of normality and is usually related with long extracorporeal circulation time and deep hypothermia. We report a 73-year-old woman, without risk factors predisposing to paroxysmal movement disorders, presenting acute choreoathetoid movements 5 days after aortic valvular replacement with normal extracorporeal circulation time and perioperative normothermia...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28129950/eeg-findings-during-paroxysmal-hemiplegia-in-a-patient-with-glut1-deficiency
#11
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
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#12
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28090678/the-epileptic-and-nonepileptic-spectrum-of-paroxysmal-dyskinesias-channelopathies-synaptopathies-and-transportopathies
#13
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...
March 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28042592/paroxysmal-nonepileptic-events-in-glut1-deficiency
#14
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/28007585/the-prrt2-knockout-mouse-recapitulates-the-neurological-diseases-associated-with-prrt2-mutations
#15
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)...
March 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/27931826/alternating-hemiplegia-of-childhood-as-a-new-presentation-of-adenylate-cyclase-5-mutation-associated-disease-a-report-of-two-cases
#16
Ana Westenberger, Christoph Max, Norbert Brüggemann, Aloysius Domingo, Karen Grütz, Heike Pawlack, Anne Weissbach, Andrea A Kühn, Juliane Spiegler, Anthony E Lang, Jürgen Sperner, Victor S C Fung, Jens Schallner, Gabriele Gillessen-Kaesbach, Alexander Münchau, Christine Klein
Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.
December 6, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#17
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...
April 2017: Brain & Development
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#18
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
https://www.readbyqxmd.com/read/27874491/movement-disorders-in-multiple-sclerosis-and-their-treatment
#19
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/27719843/functional-jerks-tics-and-paroxysmal-movement-disorders
#20
REVIEW
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
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