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Tremor and Other Hyperkinetic Movements

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https://www.readbyqxmd.com/read/29686941/adult-onset-generalized-dystonia-as-the-main-manifestation-of-megdel-syndrome
#1
Camille Giron, Emmanuel Roze, Bertrand Degos, Aurélie Méneret, Claude Jardel, Annie Lannuzel, Fanny Mochel
Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29686940/complete-resolution-of-symptoms-of-primary-orthostatic-tremor-with-perampanel
#2
María Ruiz-Julián, Jorge Luís Orozco, Alexandre Gironell
Background: Primary orthostatic tremor (POT) is an infrequent disorder whose physiopathology is unknown. Current medication is largely ineffective or only offers mild benefits. Case Report: A 75-year-old female with refractory POT treated with 4 mg/day of perampanel achieved complete symptom resolution. Owing to adverse effects, the patient reduced intake to 2 mg/day, but even at this lower dose the benefit was maintained. Discussion: We report the complete resolution of POT symptoms using low doses of perampanel, an antiepileptic drug that blocks glutamate-mediated post-synaptic excitation...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29686939/development-of-harmaline-induced-tremor-in-a-swine-model
#3
Jihyun Lee, Inyong Kim, Jeyeon Lee, Emily Knight, Lei Cheng, Shin Il Kang, Dong Pyo Jang, Su-Youne Chang
Background: In the field of translational neuroscience research, it is critical to utilize a large animal model to test the feasibility, safety, and functionality of novel therapies. Here, we describe a protocol for the development of a large animal model of tremor. Methods: In a pig model, tremor was induced with harmaline and measured with wireless accelerometers attached to the limbs. Three different doses of harmaline were tested and three repetitive injections were made at 72-hour intervals...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29607243/hereditary-myoclonus-dystonia-a-novel-sgce-variant-and-phenotype-including-intellectual-disability
#4
David G Coughlin, Tanya M Bardakjian, Meredith Spindler, Andres Deik
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)- SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common. Case Report: We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have a novel SGCE splice site variant. Discussion: This novel variant is very likely pathogenic by in silico analysis and has not been previously reported...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29607242/genetic-testing-preferences-of-individuals-in-families-with-essential-tremor
#5
Kelly V Naranjo, Jemin Park, Karen P Chen, Nora Hernandez, Lorraine N Clark, Ruth Ottman, Elan D Louis
Background: The search for essential tremor (ET) genes is active, and it is only a matter of time before genetic tests become available. Genetic testing preferences in families have been studied in numerous other neurological disorders but there are no published data about ET. Methods: We surveyed 34 ET probands and their relatives (43 affected, 28 unaffected) enrolled in our Family Study of Essential Tremor to assess their interest in genetic testing. We examined whether clinical factors influenced their interest in testing...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29607241/longitudinal-follow-up-of-impedance-drift-in-deep-brain-stimulation-cases
#6
Joshua Wong, Aysegul Gunduz, Jonathan Shute, Robert Eisinger, Stephanie Cernera, Kwo Wei David Ho, Daniel Martinez-Ramirez, Leonardo Almeida, Christina A Wilson, Michael S Okun, Christopher W Hess
Background: Impedance is an integral property of neuromodulation devices that determines the current delivered to brain tissue. Long-term variability in therapeutic impedance following deep brain stimulation (DBS) has not been extensively investigated across different brain targets. The aim was to evaluate DBS impedance drift and variability over an extended postoperative period across common DBS targets. Methods: Retrospective data from 1,764 electrode leads were included and drawn from 866 DBS patients enrolled in the University of Florida Institutional Review Board-approved INFORM database and analyzed up to 84 months post implantation...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29520331/reversal-of-status-dystonicus-after-relocation-of-pallidal-electrodes-in-dyt6-generalized-dystonia
#7
D L Marinus Oterdoom, Martje E van Egmond, Luisa Cassini Ascencao, J Marc C van Dijk, Assel Saryyeva, Martijn Beudel, Joachim Runge, Tom J de Koning, Mahmoud Abdallat, Hendriekje Eggink, Marina A J Tijssen, Joachim K Krauss
Background: DYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi) is known to be less robust than in other forms of autosomal dominant dystonia. Patients who had previous stereotactic surgery with insufficient clinical benefit form a particular challenge with very limited other treatment options available. Case Report: A pediatric DYT6 patient unexpectedly deteriorated to status dystonicus 1 year after GPi DBS implantation with good initial clinical response...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29520330/advances-in-treatment-of-wilson-disease
#8
REVIEW
Annu Aggarwal, Mohit Bhatt
Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment. In this paper we survey WD-related literature in order to review recent advances in WD treatment...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29423337/istradefylline-for-restless-legs-syndrome-associated-with-parkinson-s-disease
#9
Maierdanjiang Nuermaimaiti, Genko Oyama, Chayut Kasemsuk, Nobutaka Hattori
No abstract text is available yet for this article.
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29423336/myoclonic-jerks-exposure-to-many-cats-and-neurotoxoplasmosis-in-an-immunocompetent-male
#10
Antonio Jose Reyes, Kanterpersad Ramcharan, Stanley Lawrence Giddings, Samuel Aboh, Fidel Rampersad
Background: Myoclonic jerks are due to sudden, brief, involuntary muscle contractions, positive myoclonus, or brief cessation of ongoing muscular activity, negative myoclonus, and may be difficult to recognize. Case Report: We describe an immunocompetent, adult, male patient with sleep-related, multifocal, myoclonic jerks and neurotoxoplasmosis with abnormal cerebrospinal fluid but normal brain imaging. There was complete resolution of the myoclonus with antitoxoplasmosis therapy after 1 week, and no relapse after 1 year...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29416937/spinocerebellar-ataxia-27-a-review-and-characterization-of-an-evolving-phenotype
#11
REVIEW
Christopher L Groth, Brian D Berman
Background: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities. SCA27 is a recently identified SCA caused by mutations in the Fibroblast Growth Factor 14 gene, with a phenotypic expression that is only beginning to be fully appreciated. We report here a case of a 70-year-old male who presented with slowly worsening tremor and gait instability that began in his early adulthood along with additional features of parkinsonism on examination...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29416936/characterization-and-treatment-of-unilateral-facial-muscle-spasm-in-linear-scleroderma-a-case-report
#12
Fabio Danisi, Emma Guidi
Background: Linear scleroderma has been associated with muscle spasms ipsilateral to skin lesions. Typically, spasms are located in trigeminal innervated muscles, leading to hemimasticatory spasm (HMS). Case Report: We report a case of linear scleroderma associated with spasm of muscles innervated not only by the trigeminal but also by the facial nerve. Discussion: We review the patient's successful treatment with incobotulinumtoxinA, a formulation of botulinum toxin that has not been reported for use in this condition...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29416935/familial-cortical-myoclonic-tremor-and-epilepsy-an-enigmatic-disorder-from-phenotypes-to-pathophysiology-and-genetics-a-systematic-review
#13
REVIEW
Tom van den Ende, Sarvi Sharifi, Sandra M A van der Salm, Anne-Fleur van Rootselaar
Background: Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings. Methods: We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29520329/probable-rem-sleep-behavior-disorder-and-dysautonomic-symptoms-in-essential-tremor
#14
Raquel Barbosa, Marcelo Mendonça, Filipa Ladeira, Rita Miguel, Paulo Bugalho
Background: Non-motor symptoms can be present in essential tremor (ET). We intend to assess the frequency of rapid eye movement (REM) sleep behavior disorder (RBD) and dysautonomic symptoms in ET patients and evaluate the differences between patients with ET and RBD (ET-RBD and ET without RBD [ET-nonRBD]). Methods: All ET patients were contacted by telephone. Autonomic symptoms were assessed using the Scales for Outcomes in Parkinson's Disease-Autonomic (SCOPA-AUT) questionnaire, and RBD symptoms with the RBD screening questionnaire (RBDSQ) using ≥5 as a cut-off for probable RBD (pRBD)...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29276650/paroxysmal-kinesigenic-dyskinesia
#15
Martin Paucar, Helena Malmgren, Per Svenningsson
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 ( PRRT2 ) gene. Phenomenology Shown: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette's syndrome. Educational Value: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29276649/psychological-suffering-in-essential-tremor-a-study-of-patients-and-those-who-are-close-to-them
#16
Joan K Monin, Jesús Gutierrez, Sarah Kellner, Sarah Morgan, Kathleen Collins, Brittany Rohl, Fanny Migliore, Stephanie Cosentino, Edward Huey, Elan D Louis
Background: Although the motor and non-motor features of essential tremor (ET) have been characterized in detail, it is not known whether ET patients suffer psychologically and whether those who are close to them consider them to be suffering in this way. Methods: Fifty ET patients and 50 "close others" (COs), identified by patients "as someone who knows you well and sees you often" and who can "provide a different perspective on your well-being", reported their own depressive symptoms, daily stress, and perceptions of patient psychological suffering and patient overall suffering with validated scales...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29276648/sertraline-induced-hemichorea
#17
Emilia M Gatto, Victoria Aldinio, Virginia Parisi, Gabriel Persi, Gustavo Da Prat, Maria Bres Bullrich, Pilar Sanchez, Galeno Rojas
Background: Hemichorea-hemiballism is a syndrome secondary to different etiologies. Drug-induced hemichorea is a rare syndrome related to selective serotonin reuptake inhibitors. To the best of our knowledge, no previous cases of hemichorea associated with sertraline have been reported. Case Report: A 65-year-old female noticed hemichorea 1 week after initiation of sertraline. After extensive investigations, other causes of hemichorea were excluded. Hemichorea remitted after sertraline withdrawal...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29226021/holmes-tremor-secondary-to-a-stabbing-lesion-in-the-midbrain
#18
Rubens Gisbert Cury, Egberto Reis Barbosa, Christian Freitas, Luis Filipe de Souza Godoy, Wellingson Silva Paiva
Background: The development of Holmes tremor (HT) after a direct lesion of the midbrain has rarely been reported in the literature, although several etiologies have been linked with HT, such as stroke, brainstem tumors, multiple sclerosis, head trauma, or infections. Phenomenology Shown: A 31-year-old male, having been stabbed in the right eye, presented with a rest and action tremor in the left upper limb associated with left hemiparesis with corresponding post-contrast volumetric magnetic resonance imaging T1 with sagittal oblique reformation showing the knife trajectory reaching the right midbrain...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29226020/severe-bilateral-kinetic-tremor-due-to-unilateral-midbrain-lesions
#19
Majid Esmaeilzadeh, Nesrin Uksul, Joachim K Krauss
Background: The dentatothalamic tract connects the dentate nucleus of the cerebellum with the contralateral thalamus and plays a major role in the pathogenesis of tremor. Unilateral lesions of the dentatothalamic pathway may affect its ipsilateral predecussational or its contralateral postdecussational course, which results either in ipsilateral or in contralateral tremor. Case Report: Here, we present two patients with a unilateral midbrain lesion resulting in bilateral tremor...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29226019/absence-of-acanthocytosis-in-huntington-s-disease-like-2-a-prospective-comparison-with-huntington-s-disease
#20
David G Anderson, Sergio Carmona, Kubendran Naidoo, Theresa L Coetzer, Jonathan Carr, Dobrila D Rudnicki, Ruth H Walker, Russell L Margolis, Amanda Krause
Background: Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in HDL2 and whether acanthocytes can differentiate HDL2 from Huntington's disease (HD). Methods: We prospectively compared 13 HD and 12 HDL2 cases against 21 unaffected controls in Johannesburg. Blood smears were prepared using international standards and reviewed by at least two blinded reviewers...
2017: Tremor and Other Hyperkinetic Movements
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