19,179 results match your criteria Dystonias


Striatal and cortical metabotropic glutamate 5 receptor expression and behavioral effects of the positive allosteric modulator CDPPB in a model of DYT1 dystonia.

Pharmacol Biochem Behav 2020 Jun 29:172977. Epub 2020 Jun 29.

Institute of Pharmacology, Pharmacy and Toxicology, Faculty of Veterinary Medicine, University of Leipzig, 04103 Leipzig, Germany.

The metabotropic glutamate 5 (mGlu) receptor is critically involved in corticostriatal plasticity which is disturbed in various animal models of dystonia. Recently, the positive allosteric modulator 3-cyano-N-(1,3-diphenyl-1H-pyrazol-5-yl)benzamide (CDPPB) exerted prodyskinetic effects in a phenotypic model of episodic dystonia. In the DYT1 knock-in (KI) mouse, a model for a persistent type of dystonia, previous ex vivo electrophysiological experiments indicated that mGlu receptors are involved in abnormal striatal plasticity. Read More

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http://dx.doi.org/10.1016/j.pbb.2020.172977DOI Listing

Multisystem disease including stroke, epilepsy, dystonia, noncompaction, and kidney agenesis requires genetic work-up.

Authors:
Josef Finsterer

Childs Nerv Syst 2020 Jul 1. Epub 2020 Jul 1.

Krankenanstalt Rudolfstiftung, Messerli Institute, Postfach 20, 1180, Vienna, Austria.

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http://dx.doi.org/10.1007/s00381-020-04781-6DOI Listing

The effect of cognitive task on postural stability in cervical dystonia.

Arq Neuropsiquiatr 2020 Jul 1. Epub 2020 Jul 1.

Çukurova University, Faculty of Medicine, Department of Neurology, Adana, Turkey.

Background: Cervical dystonia (CD) is the most common form of focal dystonia. It is not known exactly whether abnormal head postures in cervical dystonia cause balance problems. Dual-tasking is a common every-day life situation. Read More

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http://dx.doi.org/10.1590/0004-282X20200038DOI Listing

A systematic review of impairment focussed technology in neurology.

Disabil Rehabil Assist Technol 2020 Jul 1:1-14. Epub 2020 Jul 1.

University of Copenhagen, Denmark.

We provide an overview of some biomedical technologies able to relieve everyday impairments in neurological patients. Two literature searches from 2009 to 2020 were conducted using PubMed, Embase, Cinahl and Scopus. The studies meeting the criteria for eligibility constituted 224 of the 6257 identified studies. Read More

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http://dx.doi.org/10.1080/17483107.2020.1776776DOI Listing

Dysarthria, Ataxia, and Dystonia Associated with Gene Mutation: A Case Report of a Turkish Child.

Ann Indian Acad Neurol 2020 May-Jun;23(3):399-401. Epub 2020 Jun 10.

Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana, Turkey.

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http://dx.doi.org/10.4103/aian.AIAN_536_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313588PMC

Lithium-Induced Lingual Dystonia.

Ann Indian Acad Neurol 2020 May-Jun;23(3):383-384. Epub 2020 Jun 10.

Department of Neurology, Lady Hardinge Medical College, New Delhi, India.

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http://dx.doi.org/10.4103/aian.AIAN_369_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313558PMC

Vitamin E Deficiency: An Under-Recognized Cause of Dystonia and Ataxia Syndrome.

Ann Indian Acad Neurol 2020 May-Jun;23(3):372-374. Epub 2020 Mar 30.

Department of Neurology, Kansas University Medical Center, Kansas City, KS, USA.

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http://dx.doi.org/10.4103/aian.AIAN_29_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313571PMC

Movement Disorders in Inherited Metabolic Diseases in Children.

Ann Indian Acad Neurol 2020 May-Jun;23(3):332-337. Epub 2020 May 9.

Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran, Children's Hospital, New Delhi, India.

Movement disorders are one of the important neurological manifestations of inherited metabolic disorders. Important clues to the presence of an underlying inborn error of metabolism are early onset, presence of neuroregression or degeneration, parental consanguinity, sibling affection, paroxysmal events, waxing and waning course, skin or hair changes, absence of a perinatal insult or any structural cause, and presence of identifiable triggers. It is particularly important to recognize this class of movement disorders as several of them are eminently treatable and may often need disease-specific therapy besides symptomatic treatment. Read More

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http://dx.doi.org/10.4103/aian.AIAN_612_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313556PMC

Trend survey on adverse event profiles of antipsychotic long-acting injections and oral agents using the Japanese adverse drug event report database.

Psychiatry Res 2020 Jun 23;291:113249. Epub 2020 Jun 23.

Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.

This study aims to assess the differences in adverse event profiles of long-acting injectable antipsychotics (LAIs) and oral antipsychotics (OAPs) using real-world data in the Japanese Adverse Drug Event Report database. Reporting odds ratios were determined using disproportionality analysis to estimate the risk of adverse events for LAIs and OAPs. Differences in adverse event profiles between formulations were determined after propensity score matching. Read More

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http://dx.doi.org/10.1016/j.psychres.2020.113249DOI Listing

Botulinum toxin for cervical dystonia: addressing treatment failure and improving outcomes.

Authors:
Ashley B Pena

Neurol Neurochir Pol 2020 ;54(3):218-219

Mayo Clinic Florida, 4500 San Pablo Rd S, 32224 Jacksonville, United States.

Introduction: Cervical dystonia is a form of focal dystonia characterised by tilting and turning of the head and neck. This can cause significant disability in affected patients. Botulinum toxin injections are the mainstay of therapy. Read More

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http://dx.doi.org/10.5603/PJNNS.2020.0047DOI Listing
January 2020

Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease.

Brain Dev 2020 Jun 26. Epub 2020 Jun 26.

Department of Pediatric Neurology, Istanbul Medipol University, Faculty of Medicine, Istanbul, Turkey.

Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics.

Material And Methods: Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described.

Results: Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Read More

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http://dx.doi.org/10.1016/j.braindev.2020.05.008DOI Listing

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.

BMC Neurol 2020 Jun 29;20(1):258. Epub 2020 Jun 29.

I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli, Italy.

Background: Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overlapping hypomyelinating leukodystrophies (HL) has been associated with mutations in RNA polymerase III enzymes (Pol III) subunits.

Case Presentation: In this manuscript, we describe two Italian siblings carrying a novel POLR3A genotype. Read More

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http://dx.doi.org/10.1186/s12883-020-01835-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322863PMC

KMT2B and Neuronal Transdifferentiation: Bridging Basic Chromatin Mechanisms to Disease Actionability.

Neurosci Insights 2020 14;15:2633105520928068. Epub 2020 Jun 14.

Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

The role of epigenetic regulators in the process of neuronal transdifferentiation was until recently largely uncharacterized, despite their key role in the physiological processes of neural fate acquisition and maintenance. In this commentary, we describe the main findings of our recent paper "KMT2B is selectively required for neuronal transdifferentiation, and its loss exposes dystonia candidate genes," where we investigated the role of this histone H3K4 methyltransferase during mouse embryonic fibroblasts (MEFs) to induced neuronal cells (iNs) direct conversion. Indeed, MEFs, transduced with three neuronal-specific transcription factors (TFs), , and , show lower transdifferentiation efficiency, defective iN maturation, and augmented alternative cell fates acquisition, with respect to controls. Read More

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http://dx.doi.org/10.1177/2633105520928068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297493PMC

Oral appliances in the treatment of oromandibular dystonia: a systematic review.

Acta Neurol Belg 2020 Jun 27. Epub 2020 Jun 27.

Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.

Oromandibular dystonia (OMD) is a clinically and etiologically heterogeneous form of focal dystonia with variable social and functional implications. The results of pharmacological treatment and botulinum toxin infiltrations are often unsatisfactory. We performed a systematic review on the effects of oral and dental appliances in patients with OMD. Read More

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http://dx.doi.org/10.1007/s13760-020-01404-4DOI Listing

Methylmercury exposure during the vulnerable window of the cerebrum in postnatal developing rats.

Environ Res 2020 Jun 9;188:109776. Epub 2020 Jun 9.

National Institute for Minamata Disease, Minamata, Japan.

The developing brain is known to be sensitive to the toxic effects of methylmercury (MeHg). The effects of toxic levels of MeHg exposure during the most seemingly vulnerable window of the cerebrum are not well studied. In this study, we aimed to examine the specific effects of toxic levels of MeHg on neurobehavior, neurodegeneration, and selenoenzyme activity in the cerebrum of infant rats. Read More

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http://dx.doi.org/10.1016/j.envres.2020.109776DOI Listing

Unilateral pallidotomy as a potential rescue therapy for cervical dystonia after unsatisfactory selective peripheral denervation.

J Neurosurg Spine 2020 Jun 26:1-9. Epub 2020 Jun 26.

1Department of Functional Neurosurgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; and.

Objective: Selective peripheral denervation (SPD) is a widely accepted surgery for medically refractory cervical dystonia (CD), but when SPD has failed, the available approaches are limited. The authors investigated the results from a cohort of CD patients treated with unilateral pallidotomy after unsatisfactory SPD.

Methods: The authors retrospectively analyzed patients with primary CD who underwent unilateral pallidotomy after SPD between April 2007 and August 2019. Read More

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http://dx.doi.org/10.3171/2020.4.SPINE191523DOI Listing

Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.

Eur J Med Genet 2020 Jun 23:103992. Epub 2020 Jun 23.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

GBA2 associated spastic paraplegia type 46 (SPG46) is an autosomal-recessive disorder associated with a clinical presentation of spastic gait, muscle weakness as well as an array of clinical symptoms including pseudobulbar palsy and progressive cognitive decline. Several neurological and non-neurological symptoms are associated with GBA2 mutations. An initial presentation with dystonia has not been reported so far. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103992DOI Listing

Dysphagia in cervical dystonia patients receiving optimised botulinum toxin therapy: a single-center retrospective cohort study.

J Neural Transm (Vienna) 2020 Jun 25. Epub 2020 Jun 25.

Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

To explore the correlations of botulinum toxin (BT) therapy with dysphagia, we wanted to study a group of cervical dystonia (CD) patients with optimised BT therapy during a prolonged period of time to record their dysphagia frequency, severity and duration, to study potential risk factors and try to avoid it by BT application with ultrasound guidance. BT therapy of 75 CD patients (23 males, 52 females, age 60 ± 12 years, BT total dose 303.5 ± 101. Read More

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http://dx.doi.org/10.1007/s00702-020-02220-zDOI Listing

Alterations in dexterity and manual function in patients with focal hand dystonia.

Neurologia 2020 Jun 22. Epub 2020 Jun 22.

Hospital Universitario Ramón y Cajal, Madrid, España.

Introduction: Focal hand dystonia is a movement disorder whose symptoms cause alterations in the performance of tasks requiring a high level of dexterity. Currently, there is no model for interpreting the disease and few studies have identified the difficulties of patients with dystonia in carrying out activities of daily living (ADL). This study aims to describe manipulative dexterity and its influence on ADLs in patients with focal hand dystonia. Read More

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http://dx.doi.org/10.1016/j.nrl.2020.04.020DOI Listing

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.

Int J Mol Sci 2020 Jun 23;21(12). Epub 2020 Jun 23.

Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.

Complex neurodevelopmental syndromes frequently have an unknown etiology, in which genetic factors play a pathogenic role. This study utilizes whole-exome sequencing (WES) to examine four members of a family with a son presenting, since birth, with epileptic-like crises, combined with cerebral palsy, severe neuromotor and developmental delay, dystonic tetraparexia, axonal motor affectation, and hyper-excitability of unknown origin. The WES study detected within the patient a de novo heterozygous in-frame duplication of thirty-six nucleotides within exon 7 of the human KCNQ2 gene. Read More

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http://dx.doi.org/10.3390/ijms21124447DOI Listing

Atlantoaxial Rotatory Dislocation in a Patient with Ankylosing Spondylitis.

Arthritis Rheumatol 2020 Jun 25. Epub 2020 Jun 25.

Department of Orthopedics and Traumatology, Charles Nicolle's Hospital, Tunis, Tunisia.

Computed tomography (CT) scan of the cervical spine and clinical aspect of a 42-year-old female followed for 5 years for ankylosing spondylitis presenting with a history of chronic cervical dystonia leading to a neglected fixed head rotation (Figure 1A). Axial CT-MIP (maximum intensity projection) showed right rotatory dislocation of C1 over C2 with 3,5mm anterior displacement of the atlas realizing the equivalent of a Type 2 dislocation according to Fielding and Hawkins classification (Figure 1B). Read More

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http://dx.doi.org/10.1002/art.41413DOI Listing

MRI Features in a Rat Model of H-ABC Tubulinopathy.

Front Neurosci 2020 3;14:555. Epub 2020 Jun 3.

Departament of Chemical, Electronic and Biomedical Engineering, DCI, University of Guanajuato, Guanajuato, Mexico.

Tubulinopathies are a group of recently described diseases characterized by mutations in the tubulin genes. Mutations in produce diseases such as dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), which are clinically diagnosed by magnetic resonance imaging (MRI). We propose the rat as the first animal model for tubulinopathies. Read More

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http://dx.doi.org/10.3389/fnins.2020.00555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284052PMC

Non-invasive Transcranial Electrical Stimulation in Movement Disorders.

Front Neurosci 2020 5;14:522. Epub 2020 Jun 5.

Movement Disorder Centre, London Health Sciences Centre, The University of Western Ontario, London, ON, Canada.

Dysfunction within large-scale brain networks as the basis for movement disorders is an accepted hypothesis. The treatment options for restoring network function are limited. Non-invasive brain stimulation techniques such as repetitive transcranial magnetic stimulation are now being studied to modify the network. Read More

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http://dx.doi.org/10.3389/fnins.2020.00522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290124PMC

Benefits, Safety, and Adjunct Modality Prevalences of Long-Term Botulinum Toxin Injections for Cervical Dystonia and Myofascial Neck Pain: A Retrospective Cohort Study.

J Pain Res 2020 3;13:1297-1304. Epub 2020 Jun 3.

Canadian Centre of Integrative Medicine, Toronto, ON, Canada.

Introduction: There is a paucity of long-term treatment benefit and safety data of botulinum toxin A (BTX-A) for cervical dystonia (CD) and myofascial neck pain syndrome (MPS). Additionally, the prevalence of adjunct modality uses during this period is unknown despite evolving practices.

Objective: To assess and compare treatment benefit, safety, and adjunct modality prevalences of long-term BTX-A injections between CD and MPS patients. Read More

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http://dx.doi.org/10.2147/JPR.S254032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276373PMC

Dyskinesia is most centrally situated in an estimated network of extrapyramidal syndrome in Asian patients with schizophrenia: findings from research on Asian psychotropic prescription patterns for antipsychotics.

Nord J Psychiatry 2020 Jun 25:1-9. Epub 2020 Jun 25.

Department of Psychiatry and Psychobiology, Nagoya University, Graduate School of Medicine, Nagoya, Japan.

Network analysis provides a new viewpoint that explicates intertwined and interrelated symptoms into dynamic causal architectures of symptom clusters. This is a process called 'symptomics' and is concurrently applied to various areas of symptomatology. Using the data from Research on Asian Psychotropic Prescription Patterns for Antipsychotics (REAP-AP), we aimed to estimate a network model of extrapyramidal syndrome in patients with schizophrenia. Read More

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http://dx.doi.org/10.1080/08039488.2020.1777462DOI Listing

Anatomy-guided injections of botulinum neurotoxin in neck muscles: how accurate is needle placement?

Eur J Neurol 2020 Jun 24. Epub 2020 Jun 24.

Service de Neurologie et Pathologie du Mouvement, CHU Lille, F-59037, Lille cedex, France.

Background: In cervical dystonia, the accuracy of botulinum neurotoxin (BoNT) injections may influence the response to the treatment.

Methods: We used ultrasound to evaluate the accuracy of anatomy-guided injections of BoNT in the neck muscles.

Results: Fifty-six consecutive patients and 332 injections were evaluated. Read More

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http://dx.doi.org/10.1111/ene.14415DOI Listing

Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia.

Acta Neurol Scand 2020 Jun 24. Epub 2020 Jun 24.

University of Groningen, University Medical Center Groningen, Department of Community and Occupational Medicine, Groningen, the Netherlands.

Objectives: Non-motor symptoms (NMS) are commonly present along with motor impairment in patients with cervical dystonia (CD) and have a significant impact on health-related quality of life (HRQoL). However, the prevalence of NMS and their association with dystonia are still unclear. The aim of our study was to assess the prevalence of depression, anxiety, fatigue, apathy, pain, sleep problems and excessive daytime sleepiness (EDS) in CD using different evaluation approaches and to explore their association with HRQoL relative to that of motor symptoms. Read More

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http://dx.doi.org/10.1111/ane.13304DOI Listing

Case studies in neuroscience: Deep brain stimulation changes upper limb cortical motor maps in dystonia.

J Neurophysiol 2020 Jun 24. Epub 2020 Jun 24.

Clinical Neuroscience, University of Calgary, Canada.

Deep brain stimulation of the globus pallidus pars interna (GPi-DBS) is an effective treatment for primary dystonia, however its therapeutic mechanism is poorly understood. Because improvement is gradual, GPi-DBS treatment likely involves short- and long-term mechanisms. Abnormal plasticity resulting in somatotopic reorganization is involved in the development of dystonia and has been proposed as a possible mechanism for this gradual improvement; yet, it has not been directly investigated. Read More

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http://dx.doi.org/10.1152/jn.00159.2020DOI Listing
June 2020
2.887 Impact Factor

Altered sensory system activity and connectivity patterns in adductor spasmodic dysphonia.

Sci Rep 2020 Jun 23;10(1):10179. Epub 2020 Jun 23.

Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Ismaningerstrasse, 22, Munich, Germany.

Adductor-type spasmodic dysphonia (ADSD) manifests in effortful speech temporarily relievable by botulinum neurotoxin type A (BoNT-A). Previously, abnormal structure, phonation-related and resting-state sensorimotor abnormalities as well as peripheral tactile thresholds in ADSD were described. This study aimed at assessing abnormal central tactile processing patterns, their spatial relation with dysfunctional resting-state connectivity, and their BoNT-A responsiveness. Read More

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http://dx.doi.org/10.1038/s41598-020-67295-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311401PMC

ATP1A3 mutation presenting as CAPOS syndrome + dystonia phenotype.

Parkinsonism Relat Disord 2020 Jun 17. Epub 2020 Jun 17.

Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, 110002, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.05.029DOI Listing

Clinical characteristics of children and adults with anti-N-methyl-D-aspartate receptor encephalitis.

Clin Neurol Neurosurg 2020 Jun 12;196:106015. Epub 2020 Jun 12.

Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.

Objectives: To investigate the clinical characteristics of children and adults with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis.

Methods: Patients who tested positive for the anti-NMDAR antibody (by a cell-based assay) in the cerebrospinal fluid were enrolled. They were divided into two groups based on age (<16 years or older). Read More

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http://dx.doi.org/10.1016/j.clineuro.2020.106015DOI Listing

Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis.

Neuromodulation 2020 Jun 23. Epub 2020 Jun 23.

Department of Neurosurgery, King's College Hospital NHS Foundation Trust, London, UK.

Background: Lesch-Nyhan syndrome (LNS) is a rare genetic disorder characterized by a deficiency of hypoxanthine-guanine phosphoribosyltransferase enzyme. It manifests during infancy with compulsive self-mutilation behavior associated with disabling generalized dystonia and dyskinesia. Clinical management of these patients poses an enormous challenge for medical teams and carers. Read More

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http://dx.doi.org/10.1111/ner.13217DOI Listing

Evoked Potentials During Peripheral Stimulation Confirm Electrode Location in Thalamic Subnuclei in Children With Secondary Dystonia.

J Child Neurol 2020 Jun 22:883073820931970. Epub 2020 Jun 22.

Department of Electrical Engineering and Computer Science, University of California, Irvine, CA, USA.

Deep brain stimulation is an elective surgical intervention that improves the function and quality of life in children with dystonia and other movement disorders. Both basal ganglia and thalamic nuclei have been found to be relevant targets for treatment of dystonia in children, including the ventral intermediate nucleus of the thalamus, in which stimulation can control dystonic spasms. Electrophysiological confirmation of correct electrode location within the ventralis intermediate nucleus is thus important for the success of the surgical outcome. Read More

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http://dx.doi.org/10.1177/0883073820931970DOI Listing
June 2020
1.666 Impact Factor

Acquired Holmes Tremor in a HIV IRIS Patient treated with Deep Brain Stimulation.

World Neurosurg 2020 Jun 18. Epub 2020 Jun 18.

Kaiser Permanente Los Angeles Medical Center, Department of Neurosurgery.

The authors present a case of a 66 year old male who was diagnosed with HIV and his medical course of highly active antiretroviral therapy (HARRT) was complicated with the development of immune reconstitution inflammatory syndrome (IRIS) which lead to development of movement disorder consisting of right sided resting tremor, neck dystonia and jaw clenching. Patient's symptoms resembled that of rubral tremor and patient underwent placement of a deep brain stimulation electrode into the left ventral intermediate nucleus of the thalamus with significant improvement of symptoms. This is the first reported case in literature of an HIV positive patient's treatment course complicated with IRIS with neurological manifestation which was refractory to medical therapy and thus treated with deep brain stimulation. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.06.099DOI Listing

Maximizing placebo response in neurological clinical practice.

Int Rev Neurobiol 2020 9;153:71-101. Epub 2020 Jun 9.

Department of Neurology, Pitié-Salpêtrière Hospital, Sorbonne University, Assistance Publique Hôpitaux de Paris, Brain and Spine Institute, ICM, Inserm U 1127, CNRS UMR 7225, Paris, France. Electronic address:

The placebo effect is a widely recognized phenomenon in clinical research, with a negative perception that it could hide the "true" drug effect. In clinical care its positive potential to increase known drug effects has been neglected for too long. The placebo and nocebo responses have been described in many neurologic disorders such as Parkinson's, Huntington's and Alzheimer's diseases, restless leg syndrome, tics, essential tremor, dystonia, functional movement disorders, neuropathic pain, headaches, migraine, amyotrophic lateral sclerosis, myasthenia gravis, chronic inflammatory demyelinating polyneuropathy, multiple sclerosis and epilepsy. Read More

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http://dx.doi.org/10.1016/bs.irn.2020.04.003DOI Listing

Reply to: Diagnostic Delay in Cervical Dystonia-Dystonia With Antecedent ET?

Mov Disord 2020 Jun;35(6):1086-1087

Department of Neurology, School of Medicine, University of California, San Francisco, California, USA.

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http://dx.doi.org/10.1002/mds.28102DOI Listing

Diagnostic Delay in Cervical Dystonia: Dystonia with Antecedent Essential Tremor?

Mov Disord 2020 Jun;35(6):1085-1086

Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, New Delhi, India.

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http://dx.doi.org/10.1002/mds.28103DOI Listing

Motor outcomes and adverse effects of deep brain stimulation for dystonic tremor: A systematic review.

Parkinsonism Relat Disord 2020 Jun 8;76:32-41. Epub 2020 Jun 8.

Department of Neurology, Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA.

Dystonic tremor (DT) is defined as the tremor in body parts affected by dystonia. Although deep brain stimulation (DBS) has been used to manage medically-refractory DT patients, its efficacy has not been well established. The objective of this study is to provide an up-to-date systematic review of DBS outcomes for DT patients. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2020.06.008DOI Listing

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia.

Turk J Pediatr 2020 ;62(3):491-494

Department of Pediatric, Neurology, İzmir Katip Celebi University, İzmir.

Background: Dystonia is a common hyperkinetic movement disorder in children; however, making an early and definitive diagnosis of dystonia can sometimes be challenging for clinicians.

Case: Herein, we report a case of a 16 years-old girl presenting with laryngeal dystonia due to compound heterozygosity of a known pathogenic and a novel variant in the ATM gene. Serum alpha-fetoprotein level was elevated. Read More

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http://dx.doi.org/10.24953/turkjped.2020.03.019DOI Listing
January 2020

Patient Experience Contributing to Outcomes of Laryngeal Botulinum Toxin Injection.

J Voice 2020 Jun 15. Epub 2020 Jun 15.

Department of Otolaryngology and Head & Neck Surgery, Mayo Clinic, Jacksonville, Florida, USA. Electronic address:

Objectives: Laryngeal Botulinum Toxin injection (LBTX) in the adductor musculature is the current therapy for Adductor Spasmodic Dysphonia. This study explores nonbiological factors that can affect the patient experience during this procedure and their association with better or worse self-reported effectiveness.

Methods: A 14 item survey was used to evaluate the patient experience in patients who had undergone LBTX in Mayo Clinic Jacksonville, Florida, during 2019. Read More

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http://dx.doi.org/10.1016/j.jvoice.2020.04.037DOI Listing
June 2020
0.944 Impact Factor

Life Threatening Delayed Complication of Botulinum Toxin Injection for Treatment of Spasmodic Dysphonia.

Prague Med Rep 2020 ;121(2):114-117

Basingstoke and North Hampshire Hospital, Basingstoke, United Kingdom.

Spasmodic dysphonia is a primary task specific focal dystonia affecting the laryngeal muscles during speech. Most medical and surgical approaches to treatment of spasmodic dysphonia are aimed at the denervation of the laryngeal muscles to block symptom expression in the voice. The standard of care for the adductor form of spasmodic dysphonia is botulinum toxin chemodenervation. Read More

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http://dx.doi.org/10.14712/23362936.2020.10DOI Listing
January 2020

Neurophysiological mechanisms of hypertonia and hypotonia in children with spastic cerebral palsy: surgical implications.

Childs Nerv Syst 2020 Jun 16. Epub 2020 Jun 16.

Neurosurgeon, Department of Neurosurgery, General Hospital of Athens "G. Gennimatas", Medical School, University of Athens, Athens, Greece.

Mechanism of hypertonia in cerebral palsy children is dual: a neural component due to spasticity (velocity dependent) and a biomechanical component linked to soft tissue changes. Their differentiation-which might be clinically difficult-is however crucial, as only the first component will respond to anti-spastic treatments, the second to physiotherapy. Furthermore, spasticity is frequently associated with dystonia, which is a sustained hypertonic state induced by attempts at voluntary motion. Read More

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http://dx.doi.org/10.1007/s00381-020-04732-1DOI Listing

Minor Structural Differences in the Cervical Spine Between Patients With Cervical Dystonia and Age-Matched Healthy Controls.

Front Neurol 2020 29;11:472. Epub 2020 May 29.

Department of Neurology, Medical University of Graz, Graz, Austria.

Cervical dystonia is the most common form of focal dystonia. The frequency and pattern of degenerative changes of the cervical spine in patients with cervical dystonia and their relation to clinical symptoms remain unclear as no direct comparison to healthy controls has been performed yet. Here, we used magnetic resonance imaging (MRI) to investigate (1) whether structural abnormalities of the cervical spine are more common in patients with cervical dystonia compared to age-matched healthy controls, (2) if there are clinical predictors for abnormalities on MRI, and (3) to calculate the inter-rater reliability of the respective radiological scales. Read More

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http://dx.doi.org/10.3389/fneur.2020.00472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272577PMC

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

BMC Neurol 2020 Jun 16;20(1):246. Epub 2020 Jun 16.

University of California San Diego, San Diego, CA, USA.

Background: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Read More

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http://dx.doi.org/10.1186/s12883-020-01798-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296679PMC

Antidepressants and movement disorders: a postmarketing study in the world pharmacovigilance database.

BMC Psychiatry 2020 Jun 16;20(1):308. Epub 2020 Jun 16.

Service de Pharmacologie Médicale et Clinique, Centre de Pharmacovigilance, de Pharmacoépidémiologie et d'Informations sur le Médicament, CHU de Toulouse, Faculté de Médecine, Toulouse, France.

Background: Antidepressants-induced movement disorders are rare and imperfectly known adverse drug reactions. The risk may differ between different antidepressants and antidepressants' classes. The objective of this study was to assess the putative association of each antidepressant and antidepressants' classes with movement disorders. Read More

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http://dx.doi.org/10.1186/s12888-020-02711-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298955PMC

Neuropathological Findings in Ephedrone Encephalopathy.

Mov Disord 2020 Jun 16. Epub 2020 Jun 16.

Queen Square Brain Bank, UCL Queen Square Institute of Neurology, London, United Kingdom.

Background: A number of cases of severe parkinsonism-dystonia have been recognized and reported following the illicit use of ephedrone prepared from pseudoephedrine and potassium permanganate. The pathology associated with ephedrone neurotoxicity has not been described yet in the scientific literature.

Objectives: To report the first neuropathological study of ephedrone toxicity. Read More

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http://dx.doi.org/10.1002/mds.28125DOI Listing

Mapping the insula with stereo-electroencephalography: The emergence of semiology in insula lobe seizures.

Ann Neurol 2020 Jun 15. Epub 2020 Jun 15.

Univ. Grenoble Alpes, Inserm, U1216, Grenoble Institut Neurosciences, GIN, 38000, Grenoble, France.

Objective: Insula epilepsy is rare and can be evaluated effectively by Stereotactic intracerebral EEG (SEEG). Many previous studies of insulo-opercular seizures have been unable to separate insular and opercular onset. With adequate sampling of the insula, this study shows this is possible. Read More

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http://dx.doi.org/10.1002/ana.25817DOI Listing

Topiramate-Associated Movement Disorder: Case Series and Literature Review.

Clin Neuropharmacol 2020 Jun 11. Epub 2020 Jun 11.

Medicine Department, Federal University of Santa Maria, Santa Maria, Brazil.

Background: Topiramate (TPM) is a fructose derivative, which was originally developed as an antiepileptic. In this context, movement disorders (MDs) are possible adverse events secondary to TPM.

Case Reports: Two patients (cases 1 and 2) developed myoclonus, and the other 2 had restless leg syndrome (RLS, cases 3 and 4). Read More

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http://dx.doi.org/10.1097/WNF.0000000000000395DOI Listing