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https://www.readbyqxmd.com/read/28432047/delayed-lgi1-seropositivity-in-voltage-gated-potassium-channel-vgkc-complex-antibody-limbic-encephalitis
#1
Michael Sweeney, Jonathan Galli, Scott McNally, Anne Tebo, Thomas Haven, Perla Thulin, Stacey L Clardy
We utilise a clinical case to highlight why exclusion of voltage-gated potassium channel (VGKC)-complex autoantibody testing in serological evaluation of patients may delay or miss the diagnosis. A 68-year-old man presented with increasing involuntary movements consistent with faciobrachial dystonic seizures (FBDS). Initial evaluation demonstrated VGKC antibody seropositivity with leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) seronegativity. Aggressive immunotherapy with methylprednisolone and plasmapheresis was started early in the course of his presentation...
April 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28420263/an-unusual-cause-of-frequent-sudden-transient-unexplained-falls-and-new-onset-status-epilepticus-case-report-and-mini-review
#2
Dinesh Singh, Alford Dyer, Sherry Gu, Patrick McCarville, Annie Hess, Olugbenga Akingbola, Jane El-Dahr, Stephen Nelson
We report a 14-year old adolescent Caucasian female, who presented with frequent, sudden, transient, and unexplained falls leading to multiple serious injuries to her head and extremities requiring several visits to the emergency department. She was evaluated numerous times and imaging studies, echocardiogram, electrocardiogram, and electroencephalogram studies were all normal. She eventually presented to outside emergency department with dystonic posturing and status epilepticus and was transferred to our pediatric intensive care unit for further management...
April 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28419660/acute-masseter-dystonia-in-a-pediatric-patient-receiving-aripiprazole-and-methylphenidate-following-induction-of-general-anesthesia
#3
Michelle LeRiger, Jasper Williams, Greta Duncan-Wiebe, Mohanad Shukry
An 11-year-old male receiving aripiprazole, methylphenidate, and clonidine developed acute masseter dystonia inhibiting tracheal intubation after induction of general anesthesia with propofol and rocuronium. Following emergence, he had trismus and jaw discomfort. Psychiatry consultation suspected an acute dystonic reaction, so diphenhydramine was administered intravenously which resolved symptoms. We suspect chronic aripiprazole and methylphenidate usage combined with propofol administration in the short-term absence of methylphenidate made this patient susceptible to dystonic reactions...
April 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28415166/holmes-tremor-with-shoulder-pain-treated-by-deep-brain-stimulation-of-unilateral-ventral-intermediate-thalamic-nucleus-and-globus-pallidus-internus
#4
Sabri Aydın, Huseyin Canaz, Ezgi Tuna Erdogan, Nazlı Durmaz, Barıs Topcular
A 21-year-old male was admitted with severe right arm and hand tremors after a thalamic hemorrhage caused by a traffic accident. He was also suffering from agonizing pain in his right shoulder that manifested after the tremor. Neurologic examination revealed a disabling, severe, and irregular kinetic and postural tremor in the right arm during target-directed movements. There was also an irregular ipsilateral rest tremor and dystonic movements in the distal part of the right arm. The amplitude was moderate at rest and extremely high during kinetic and intentional movements...
April 18, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28412499/parkinsonism-and-dystonia-are-differentially-induced-by-modulation-of-different-territories-in-the-basal-ganglia
#5
Deepak Kumbhare, Kathryn L Holloway, Mark S Baron
Numerous clinical and experimental observations suggest that deficient neuronal signaling in the globus pallidus externa (GPe) is integral to both Parkinson's disease (PD) and dystonia. In our previous studies in jaundiced dystonic rats, widespread silencing of neurons in GP (rodent equivalent to GPe) preceded and persisted during dystonic motor activity. We therefore hypothesized that on a background of slow and highly irregular and bursty neuronal activity in GP, cortical motor drive produces profound inhibition of GP as the basis for action induced dystonia in Gunn rats...
April 12, 2017: Neuroscience
https://www.readbyqxmd.com/read/28395573/risk-factors-for-developing-scoliosis-in-cerebral-palsy-a-cross-sectional-descriptive-study
#6
Carlo M Bertoncelli, Federico Solla, Peter R Loughenbury, Athanasios I Tsirikos, Domenico Bertoncelli, Virginie Rampal
This study aims to identify the risk factors leading to the development of severe scoliosis among children with cerebral palsy. A cross-sectional descriptive study of 70 children (aged 12-18 years) with severe spastic and/or dystonic cerebral palsy treated in a single specialist unit is described. Statistical analysis included Fisher exact test and logistic regression analysis to identify risk factors. Severe scoliosis is more likely to occur in patients with intractable epilepsy ( P = .008), poor gross motor functional assessment scores ( P = ...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28395385/genetic-phenotypic-and-interferon-biomarker-status-in-adar1-related-neurological-disease
#7
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton, Maria Luisa Carpanelli, Alfredo M Cerisola, Cindy Colson, Russell C Dale, Federica Rachele Danti, Niklas Darin, Begoña De Azua, Valentina De Giorgis, Christian G L De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael C Fahey, Penny Fallon, Alex Fay, Elisa Fazzi, Mark P Gorman, Nirmala Rani Gowrinathan, Marie Hully, Manju A Kurian, Nicolas Leboucq, Jean-Pierre S-M Lin, Matthew A Lines, Soe S Mar, Reza Maroofian, Laura Martí-Sanchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Dario Ortigoza-Escobar, Belén Pérez-Dueñas, Florence Petit, Keri M Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez-Pombo, Agathe Roubertie, Tommy I Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H Livingston, Yanick J Crow
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p...
April 10, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28360986/confusion-faciobrachial-dystonic-seizures-and-critical-hyponatremia-in-a-patient-with-voltage-gated-potassium-channel-encephalitis
#8
Julian Yaxley
Autoimmune limbic encephalitis is a rare cause of encephalitic disease. It is associated with various target antigens and is difficult to diagnose, and experience with its treatment is limited. This case report describes a 69-year-old man, who presented with life-threatening hyponatremia and confusion, following several months of gradually worsening faciobrachial dystonic seizures. Faciobrachial dystonic seizures are a well-described feature classically observed in voltage-gated potassium channel autoimmune encephalitis...
March 2017: Korean Journal of Family Medicine
https://www.readbyqxmd.com/read/28331893/striking-basal-ganglia-imaging-abnormalities-in-lgi1-ab-faciobrachial-dystonic-seizures
#9
A Sebastian López Chiriboga, Jason L Siegel, William O Tatum, Jerry J Shih, Eoin P Flanagan
No abstract text is available yet for this article.
May 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28316586/spatial-and-temporal-high-processing-of-visual-and-auditory-stimuli-in-cervical-dystonia
#10
Gaetana Chillemi, Alessandro Calamuneri, Francesca Morgante, Carmen Terranova, Vincenzo Rizzo, Paolo Girlanda, Maria Felice Ghilardi, Angelo Quartarone
OBJECTIVE: Investigation of spatial and temporal cognitive processing in idiopathic cervical dystonia (CD) by means of specific tasks based on perception in time and space domains of visual and auditory stimuli. BACKGROUND: Previous psychophysiological studies have investigated temporal and spatial characteristics of neural processing of sensory stimuli (mainly somatosensorial and visual), whereas the definition of such processing at higher cognitive level has not been sufficiently addressed...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28297686/-early-experience-with-the-vercise-sup-tm-sup-dbs-system-in-the-treatment-of-dystonic-tremor
#11
Yasushi Miyagi
Six cases of dystonic tremor were treated with the Vercise<sup>TM</sup> deep brain stimulation(DBS)system, which has the multiple independent current control(MICC)technology. The mean preoperative score of Burke-Fahn-Marsden dystonia rating scale was 16.2±9.4, which was reduced to 6.1±4.6 at 5 months postoperatively. A 65-year-old male presented an intractable dystonic tremor of the jaw, neck, and shoulders due to tardive syndrome. He experienced the successful tremor relief after unipolar DBS in the globus pallidus internus(GPi)with Vercise<sup>TM</sup> but complained of dysarthria...
March 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28275351/botulinum-toxin-is-effective-in-the-management-of-neurogenic-dysphagia-clinical-electrophysiological-findings-and-tips-on-safety-in-different-neurological-disorders
#12
Enrico Alfonsi, Domenico A Restivo, Giuseppe Cosentino, Roberto De Icco, Giulia Bertino, Antonio Schindler, Massimiliano Todisco, Mauro Fresia, Andrea Cortese, Paolo Prunetti, Matteo C Ramusino, Arrigo Moglia, Giorgio Sandrini, Cristina Tassorelli
Background and Aims: Neurogenic dysphagia linked to failed relaxation of the upper esophageal sphincter (UES) can be treated by injecting botulinum toxin (BTX) into the cricopharyngeal (CP) muscle. We compared the effects of this treatment in different neurological disorders with dysphagia, to evaluate its efficacy over time including the response to a second injection. Materials and Methods: Sixty-seven patients with neurogenic dysphagia associated with incomplete or absent opening of the UES (24 with brainstem or hemispheric stroke, 21 with parkinsonian syndromes, 12 with multiple sclerosis, and 10 with spastic-dystonic syndromes secondary to post-traumatic encephalopathy) were treated with the injection of IncobotulinumtoxinA (dose 15-20 U) into the CP muscle under electromyographic guidance...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28255730/medial-temporal-lobe-epilepsy-associated-with-hippocampal-sclerosis-is-a-distinctive-syndrome
#13
Young Joo No, Chiara Zavanone, Franck Bielle, Vi-Huong Nguyen-Michel, Yves Samson, Claude Adam, Vincent Navarro, Sophie Dupont
Epileptic syndromes are distinctive disorders with specific features, which when taken together, permit a specific diagnosis. There is actually a debate on that medial temporal lobe epilepsy with hippocampal sclerosis is an epileptic syndrome. To address this issue, we searched for discriminative semiological features between temporal lobe epilepsy patients with hippocampal sclerosis (TLE-HS patients or group 1), TLE patients with medial structural lesion other than hippocampal sclerosis or in MRI-negative cases with medial onset on further investigations (group 2) and lateral TLE patients (LTLE or group 3)...
March 2, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28246967/the-cognitive-role-of-the-globus-pallidus-interna-insights-from-disease-states
#14
M J Gillies, J A Hyam, A R Weiss, C A Antoniades, R Bogacz, J J Fitzgerald, T Z Aziz, M A Whittington, Alexander L Green
The motor symptoms of both Parkinson's disease and focal dystonia arise from dysfunction of the basal ganglia, and are improved by pallidotomy or deep brain stimulation of the Globus Pallidus interna (GPi). However, Parkinson's disease is associated with a greater degree of basal ganglia-dependent learning impairment than dystonia. We attempt to understand this observation in terms of a comparison of the electrophysiology of the output of the basal ganglia between the two conditions. We use the natural experiment offered by Deep Brain Stimulation to compare GPi local field potential responses in subjects with Parkinson's disease compared to subjects with dystonia performing a forced-choice decision-making task with sensory feedback...
May 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28237421/theory-of-mind-emotional-and-social-functioning-and-motor-severity-in-children-and-adolescents-with-dystonic-cerebral-palsy
#15
Dolapo Adegboye, Annette Sterr, Jean-Pierre Lin, Tamsin J Owen
AIMS: This cross-sectional study aimed to investigate whether children and adolescents with dystonic cerebral palsy (CP) present with emotional and social difficulties along side motor limitations. PARTICIPANTS/MEASURES: Twenty-two verbal and nonverbal children and adolescents with dystonic CP were compared with a normative sample of twenty children and adolescents on measures of theory of mind (ToM), emotion regulation (ER), and social difficulties (SD). RESULTS: Higher social and emotional difficulties were found in the dystonic CP group compared to the control group...
January 31, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28220756/deep-brain-stimulation-for-childhood-dystonia-is-where-as-important-as-in-whom
#16
REVIEW
Daniel E Lumsden, Margaret Kaminska, Keyoumars Ashkan, Richard Selway, Jean-Pierre Lin
Deep brain stimulation (DBS) has become a mainstay of dystonia management in adulthood. Typically targeting electrode placement in the GPi, sustained improvement in dystonic symptoms are anticipated in adults with isolated genetic dystonias. Dystonia in childhood is more commonly a symptomatic condition, with dystonia frequently expressed on the background of a structurally abnormal brain. Outcomes following DBS in this setting are much more variable, the reasons for which have yet to be elucidated. Much of the focus on improving outcomes following DBS in dystonia management has been on the importance of patient selection, with, until recently, little discussion of the choice of target...
January 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28203577/ertapenem-induced-encephalopathy-in-a-patient-with-normal-renal-function
#17
S Scott Sutton, Mark Jumper, Sean Cook, Babatunde Edun, Michael D Wyatt
Drug-induced neurotoxicity is a rare adverse reaction associated with ertapenem. Encephalopathy is a type of neurotoxicity that is defined as a diffuse disease of the brain that alters brain function or structure. We report a patient with normal renal function who developed ertapenem-induced encephalopathy manifesting as altered mental status, hallucinations, and dystonic symptoms. The patient's symptoms improved dramatically following ertapenem discontinuation, consistent with case reports describing ertapenem neurotoxicity in renal dysfunction...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28199993/intraoperative-thresholds-for-capsular-stimulation-are-reliable-for-chronic-pallidal-deep-brain-stimulation-in-dystonia
#18
René Reese, Martin M Reich, Daniela Falk, Günther Deuschl, H Maximilian Mehdorn, Jens Volkmann
BACKGROUND: The threshold current for inducing muscle contractions by stimulation of pyramidal tract fibres adjacent to the globus pallidus internus (GPi) is, besides microelectrode recordings for the determination of nuclear boundaries, currently the only neurophysiological marker for intraoperative refinement of the anatomically planned target point for pallidal deep brain stimulation (GPi-DBS) in dystonia. OBJECTIVES: To determine the relationship between intraoperative thresholds for muscle contractions under general anaesthesia and postoperative thresholds in GPi-DBS...
February 16, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28192488/does-dystonic-muscle-activity-affect-sense-of-effort-in-cervical-dystonia
#19
Loïc Carment, Marc A Maier, Sophie Sangla, Vincent Guiraud, Serge Mesure, Marie Vidailhet, Påvel G Lindberg, Jean-Pierre Bleton
BACKGROUND: Focal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD). We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues. METHODS: Neck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects. Subjects performed force-matching and force-maintaining tasks at 5% and 20% of maximum voluntary contraction (MVC)...
2017: PloS One
https://www.readbyqxmd.com/read/28168537/hyperkinetic-movement-disorder-emergencies
#20
REVIEW
Giovanni Cossu, Carlo Colosimo
A movement disorder emergency has been defined by Fahn and Frucht as "any neurological disorder evolving acutely or subacutely, in which the clinical presentation is dominated by a primary movement disorder, and in which failure to accurately diagnose and manage the patient may result in significant morbidity or even mortality." In this review, we discuss the most common situations in which hyperkinetic movement disorders, including chorea, ballism, dystonia, myoclonus, tics, as well as psychogenic disorders, can present as emergencies...
January 2017: Current Neurology and Neuroscience Reports
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