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https://www.readbyqxmd.com/read/29771692/the-expanding-spectrum-of-paroxysmal-movement-disorders-update-from-clinical-features-to-therapeutics
#1
Eavan M McGovern, Emmanuel Roze, Timothy J Counihan
PURPOSE OF REVIEW: This review will discuss the expanding clinical spectrum of paroxysmal movement disorders and therapeutic options in light of emerging genotypic heterogeneity in these conditions. RECENT FINDINGS: Paroxysmal movement disorders comprise a heterogeneous group of rare neurological conditions characterized by intermittent episodes of abnormal movement associated with various triggers. As the clinical and genotypic spectrum of these disorders evolves, so also has the range of therapeutic options...
May 15, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29767379/individual-cognitive-change-after-dbs-surgery-in-parkinson-s-disease-patients-using-reliable-change-index-methodology
#2
Thomas Foki, Daniela Hitzl, Walter Pirker, Klaus Novak, Gisela Pusswald, Johann Lehrner
Long-term therapy of Parkinson's disease (PD) with levodopa (L-DOPA) is associated with a high risk of developing motor fluctuations and dyskinesia. Deep brain stimulation (DBS) in PD patients of the subthalamic nucleus can improve these motor complications. Although the positive effect on motor symptoms has been proven, postoperative cognitive decline has been documented. To tackle the impact of PD-DBS on cognition, 18 DBS patients were compared to 25 best medically treated Parkinson's patients, 24 Mild Cognitive Impairment (MCI) patients and 12 healthy controls using the Neuropsychological Test Battery Vienna-long (NTBV-long) for cognitive outcome 12 months after first examination...
May 16, 2018: Neuropsychiatrie: Klinik, Diagnostik, Therapie und Rehabilitation
https://www.readbyqxmd.com/read/29761408/parametric-imaging-for-the-assessment-of-cardiac-motion-a-review
#3
REVIEW
Narjes Benameur, Enrico Gianluca Caiani, Younes Arous, Nejmeddine Ben Abdallah, Tarek Kraiem
The assessment of wall motion abnormalities such as hypokinesia or dyskinesia and the identification of their extent as well as their degree of severity allow an accurate evaluation of several ischemic heart diseases and an early diagnosis of heart failure. These dysfunctions are usually revealed by a drop of contraction indicating a regional hypokinesia or a total absence of the wall motion in case of akinesia. The discrimination between these contraction abnormalities plays also a significant role in the therapeutic decision through the differentiation between the infarcted zones, which have lost their contractile function, and the stunned areas that still retain viable myocardial tissues...
May 14, 2018: Cardiovascular Engineering and Technology
https://www.readbyqxmd.com/read/29761156/viewpoint-and-practical-recommendations-from-a-movement-disorder-specialist-panel-on-objective-measurement-in-the-clinical-management-of-parkinson-s-disease
#4
REVIEW
Per Odin, K Ray Chaudhuri, Jens Volkmann, Angelo Antonini, Alexander Storch, Espen Dietrichs, Zvezdan Pirtošek, Tove Henriksen, Malcolm Horne, David Devos, Filip Bergquist
Motor aspects of Parkinson's disease, such as fluctuations and dyskinesia, can be reliably evaluated using a variety of "wearable" technologies, but practical guidance on objective measurement (OM) and the optimum use of these devices is lacking. Therefore, as a first step, a panel of movement disorder specialists met to provide guidance on how OM could be assessed and incorporated into clinical guidelines. A key aspect of the incorporation of OM into the management of Parkinson's disease (PD) is defining cutoff values that separate "controlled" from "uncontrolled" symptoms that can be modified by therapy and that relate to an outcome that is relevant to the person with PD (such as quality of life)...
2018: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/29758293/tle1-a-key-player-in-neurogenesis-a-new-candidate-gene-for-autosomal-recessive-postnatal-microcephaly
#5
Mara Cavallin, Camille Maillard, Marie Hully, Marion Philbert, Nathalie Boddaert, Madeline Louise Reilly, Patrick Nitschké, Amandine Bery, Nadia Bahi-Buisson
Postnatal microcephaly comprises a heterogeneous group of neurodevelopmental disorders of varying severity, characterized by normal head size at birth, followed by a postnatal deceleration in head circumference of greater than 3 standard deviations (SD) below the mean. Many postnatal microcephaly syndromes are caused by mutations in genes known to be important for the regulation of gene expression in the developing forebrain. We studied a consanguineous Pakistani family with postnatal microcephaly, orofacial dyskinesia, spastic quadriplegia and, on MRI, cortical atrophy with myelination delay, suggestive of a FOXG1-like presentation...
May 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29758221/inhibition-of-striatal-cholinergic-interneuron-activity-by-the-kv7-opener-retigabine-and-the-nonsteroidal-anti-inflammatory-drug-diclofenac
#6
Rodrigo Manuel Paz, Cecilia Tubert, Agostina Stahl, Analía López Díaz, Roberto Etchenique, Mario Gustavo Murer, Lorena Rela
Striatal cholinergic interneurons provide modulation to striatal circuits involved in voluntary motor control and goal-directed behaviors through their autonomous tonic discharge and their firing "pause" responses to novel and rewarding environmental events. Striatal cholinergic interneuron hyperactivity was linked to the motor deficits associated with Parkinson's disease and the adverse effects of chronic antiparkinsonian therapy like l-DOPA-induced dyskinesia. Here we addressed whether Kv7 channels, which provide negative feedback to excitation in other neuron types, are involved in the control of striatal cholinergic interneuron tonic activity and response to excitatory inputs...
May 11, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29756234/inhaling-xenon-ameliorates-l-dopa-induced-dyskinesia-in-experimental-parkinsonism
#7
Jérôme Baufreton, Tomislav Milekovic, Qin Li, Steve McGuire, Eduardo Martin Moraud, Grégory Porras, Shiqi Sun, Wai Kin D Ko, Marine Chazalon, Stéphanie Morin, Elisabeth Normand, Géraldine Farjot, Aude Milet, Jan Pype, Elsa Pioli, Gregoire Courtine, Baptiste Bessière, Erwan Bezard
Parkinson's disease motor symptoms are treated with levodopa, but long-term treatment leads to disabling dyskinesia. Altered synaptic transmission and maladaptive plasticity of corticostriatal glutamatergic projections play a critical role in the pathophysiology of dyskinesia. Because the noble gas xenon inhibits excitatory glutamatergic signaling, primarily through allosteric antagonism of the N-methyl-d-aspartate receptors, we aimed to test its putative antidyskinetic capabilities. We first studied the direct effect of xenon gas exposure on corticostriatal plasticity in a murine model of levodopa-induced dyskinesia We then studied the impact of xenon inhalation on behavioral dyskinetic manifestations in the gold-standard rat and primate models of PD and levodopa-induced dyskinesia...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29755396/overlapping-autoimmune-syndromes-in-patients-with-glial-fibrillary-acidic-protein-antibodies
#8
Xinguang Yang, Huiming Xu, Meilin Ding, Qingmei Huang, Baikeng Chen, Huacai Yang, Tianni Liu, Youming Long, Cong Gao
Background: Glial fibrillary acidic protein (GFAP) astrocytopathy, an autoimmune central nervous system disorder with a specific GFAP-IgG, often coexists with other antibodies. Objective: The aim of this article was to study overlapping syndromes in autoimmune GFAP astrocytopathy. Methods: Antibody was detected by indirect immunofluorescence assay. Patient data were analyzed retrospectively. Results: Thirty patients with positive GFAP-IgG were included, of whom 10 were defined as overlapping syndrome...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29748112/automated-assessment-of-levodopa-induced-dyskinesia-evaluating-the-responsiveness-of-video-based-features
#9
Michael H Li, Tiago A Mestre, Susan H Fox, Babak Taati
INTRODUCTION: Technological solutions for quantifying Parkinson's disease (PD) symptoms may provide an objective means to track response to treatment, including side effects such as levodopa-induced dyskinesia. Vision-based systems are advantageous as they do not require physical contact with the body and have minimal instrumentation compared to wearables. We have developed a vision-based system to quantify a change in dyskinesia as reported by patients using 2D videos of clinical assessments during acute levodopa infusions...
May 5, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29748109/efficacy-and-safety-of-adjunctive-rasagiline-in-japanese-parkinson-s-disease-patients-with-wearing-off-phenomena-a-phase-2-3-randomized-double-blind-placebo-controlled-multicenter-study
#10
Nobutaka Hattori, Atsushi Takeda, Shinichi Takeda, Akira Nishimura, Masafumi Kato, Hideki Mochizuki, Masahiro Nagai, Ryosuke Takahashi
INTRODUCTION: Rasagiline, a selective, irreversible monoamine oxidase-B inhibitor, is in development in Japan as adjunctive therapy to levodopa. This Phase 2/3 trial evaluated the efficacy and safety of adjunctive rasagiline in Japanese patients with Parkinson's disease (PD) and wearing-off phenomena. METHODS: Patients aged 30-79 years with diagnosed PD and stable levodopa use were randomized 1:1:1 to rasagiline (0.5/1 mg/day) or placebo for 26 weeks. The primary endpoint was change from baseline in mean daily OFF-time during the treatment period...
April 27, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29746402/update-in-therapeutic-strategies-for-parkinson-s-disease
#11
Jaime Kulisevsky, Lais Oliveira, Susan H Fox
PURPOSE OF REVIEW: To review recent advances in therapeutics for motor and nonmotor symptoms of Parkinson's disease. RECENT FINDINGS: Neuroprotection remains a large area of investigation with preliminary safety data on alpha synuclein immunotherapy and glucagon-like peptide-1 agonists. Novel Monoamine Oxidase B and Caetchol-O-methyltransferase-inhibitors for motor fluctuations have shown benefit and are recently approved for clinical use. Long-acting amantadine has also been approved to reduce dyskinesia...
May 8, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29742330/revisiting-the-abnormal-involuntary-movement-scale-proceedings-from-the-tardive-dyskinesia-assessment-workshop
#12
John M Kane, Christoph U Correll, Andrew A Nierenberg, Stanley N Caroff, Martha Sajatovic
OBJECTIVE: To provide an historic overview of the Abnormal Involuntary Movement Scale (AIMS) in clinical trials of tardive dyskinesia (TD), with current recommendations for analyzing and interpreting AIMS data. PARTICIPANTS: Seven psychiatrists and 1 neurologist were selected by the workshop sponsor based on each individual's clinical expertise and research experience. EVIDENCE: Using PubMed entries from January 1970 to August 2017, participants selected studies that used the AIMS to evaluate TD treatments...
May 8, 2018: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29741160/adaptive-deep-brain-stimulation-for-parkinson-s-disease-using-motor-cortex-sensing
#13
Nicole C Swann, Coralie de Hemptinne, Margaret C Thompson, Svjetlana Miocinovic, Andrew M Miller, Ro'ee Gilron, Jill L Ostrem, Howard J Chizeck, Philip A Starr
OBJECTIVE: Contemporary deep brain stimulation (DBS) for Parkinson's disease is delivered continuously, and adjustments based on patient's changing symptoms must be made manually by a trained clinician. Patients may be subjected to energy intensive settings at times when they are not needed, possibly resulting in stimulation-induced adverse effects, such as dyskinesia. One solution is 'adaptive' DBS, in which stimulation is modified in real time based on neural signals that co-vary with the severity of motor signs or of stimulation-induced adverse effects...
May 9, 2018: Journal of Neural Engineering
https://www.readbyqxmd.com/read/29740353/distinct-associations-of-motor-domains-in-relatives-of-schizophrenia-patients-different-pathways-to-motor-abnormalities-in-schizophrenia
#14
Lea Schäppi, Katharina Stegmayer, Petra V Viher, Sebastian Walther
Introduction: Aberrant motor function is an integral part of schizophrenia. In fact, abnormalities are frequently found in patients, in populations at risk, and in unaffected relatives. Motor abnormalities are suspected to be relevant for the clinical outcome and could probably predict the conversion from at-risk individuals to schizophrenia. Furthermore, motor function has been argued as endophenotype of the disorder. Yet, which particular motor domain may classify as a potential endophenotype is unknown...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29735119/paroxysmal-dyskinesias
#15
Sara McGuire, Swati Chanchani, Divya S Khurana
Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29727693/mutations-in-c11orf70-cause-primary-ciliary-dyskinesia-with-randomization-of-left-right-body-asymmetry-due-to-defects-of-outer-and-inner-dynein-arms
#16
Inga M Höben, Rim Hjeij, Heike Olbrich, Gerard W Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G Nielsen, Maria C Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T Loges, Heymut Omran
Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29727692/c11orf70-mutations-disrupting-the-intraflagellar-transport-dependent-assembly-of-multiple-axonemal-dyneins-cause-primary-ciliary-dyskinesia
#17
Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M K Chung, Michel Lemullois, Anne Aubusson-Fleury, Claire Hogg, David R Mitchell, Anne-Marie Tassin, Hannah M Mitchison
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by mutations affecting the core axoneme structure of motile cilia that is essential for movement. Genes that cause PCD when mutated include a group that encode proteins essential for the assembly of the ciliary dynein motors and the active transport process that delivers them from their cytoplasmic assembly site into the axoneme...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29725667/telehealth-management-of-parkinson-s-disease-using-wearable-sensors-an-exploratory-study
#18
Dustin A Heldman, Denzil A Harris, Timothy Felong, Kelly L Andrzejewski, E Ray Dorsey, Joseph P Giuffrida, Barry Goldberg, Michelle A Burack
Background: Parkinson's disease (PD) motor symptoms can fluctuate and may not be accurately reflected during a clinical evaluation. In addition, access to movement disorder specialists is limited for many with PD. The objective was to assess the impact of motion sensor-based telehealth diagnostics on PD clinical care and management. Methods: Eighteen adults with PD were randomized to control or experimental groups. All participants were instructed to use a motion sensor-based monitoring system at home one day per week, for seven months...
September 2017: Digital Biomarkers
https://www.readbyqxmd.com/read/29725381/soleus-muscle-h-reflex-monitoring-in-endoscopic-surgery-under-general-anesthesia-percutaneous-interlaminar-approach
#19
Huixue Wang, Yingji Gao, Lixin Ji, Wanshan Bai
The clinical value of soleus muscle H-reflex monitoring in general anesthesia percutaneous interlaminar approach was investigated. A total of 80 cases with unilateral L5-S1 disc herniation between January 2015 and October 2016 were randomly divided into control group (without soleus muscle H-reflex monitoring, n=40) and observation group (with soleus muscle H-reflex monitoring, n=40). Results showed that the operation time of the observation group was shorter than that of the control group (P<0.05), and the blood loss during the operation was less than that of the control group (P<0...
May 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29723155/a-pilot-study-exploring-the-impact-of-cardiac-medications-on-ciliary-beat-frequency-possible-implications-for-clinical-management
#20
Rohit S Loomba, Abhinav Bhushan, Adeleye J Afolayan
BACKGROUND: Cilia are involved in several physiologic processes, and at least a single primary cilium can be found on nearly every cell in the human body. Various factors, such as pH, temperature, exposure to medications and toxins can impact ciliary function as is manifested by changes in the ciliary beat frequency. Those with ciliary dyskinesia may also have congenital cardiac malformations and may require care in a cardiac intensive care unit. This study investigates the effect on the ciliary beat frequency of medications frequently used in a cardiac intensive care unit...
May 3, 2018: Journal of Basic and Clinical Physiology and Pharmacology
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