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https://www.readbyqxmd.com/read/28333097/effects-of-a-sativex-like-combination-of-phytocannabinoids-on-disease-progression-in-r6-2-mice-an-experimental-model-of-huntington-s-disease
#1
Sara Valdeolivas, Onintza Sagredo, Mercedes Delgado, Miguel A Pozo, Javier Fernández-Ruiz
Several cannabinoids afforded neuroprotection in experimental models of Huntington's disease (HD). We investigated whether a 1:1 combination of botanical extracts enriched in either ∆⁸-tetrahydrocannabinol (∆⁸-THC) or cannabidiol (CBD), which are the main constituents of the cannabis-based medicine Sativex(®), is beneficial in R6/2 mice (a transgenic model of HD), as it was previously shown to have positive effects in neurotoxin-based models of HD. We recorded the progression of neurological deficits and the extent of striatal deterioration, using behavioral, in vivo imaging, and biochemical methods in R6/2 mice and their corresponding wild-type mice...
March 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#2
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331322/the-role-of-deep-brain-stimulation-in-parkinson-s-disease-an-overview-and-update-on-new-developments
#3
REVIEW
John Y Fang, Christopher Tolleson
Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the loss of neuronal dopamine production in the brain. Oral therapies primarily augment the dopaminergic pathway. As the disease progresses, more continuous delivery of therapy is commonly needed. Deep brain stimulation (DBS) has become an effective therapy option for several different neurologic and psychiatric conditions, including PD. It currently has US Food and Drug Administration approval for PD and essential tremor, as well as a humanitarian device exception for dystonia and obsessive-compulsive disorder...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28330871/human-mitochondrial-cytochrome-c-oxidase-assembly-factor-cox18-acts-transiently-as-a-membrane-insertase-within-the-subunit-2-maturation-module
#4
Myriam Bourens, Antoni Barrientos
Defects in mitochondrial cytochrome c oxidase or respiratory chain complex IV (CIV) assembly are a frequent cause of human mitochondrial disorders. Specifically, mutations in four conserved assembly factors impinging the biogenesis of the mitochondrion-encoded catalytic core subunit 2 (COX2) result in myopathies. These factors afford stability of newly-synthesized COX2 (the dystonia-ataxia syndrome protein COX20), a protein with two transmembrane domains, and maturation of its copper center CuA (cardiomyopathy proteins SCO1, SCO2 and COA6)...
March 22, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28326032/a-dynamic-circuit-hypothesis-for-the-pathogenesis-of-blepharospasm
#5
David A Peterson, Terrence J Sejnowski
Blepharospasm (sometimes called "benign essential blepharospasm," BEB) is one of the most common focal dystonias. It involves involuntary eyelid spasms, eye closure, and increased blinking. Despite the success of botulinum toxin injections and, in some cases, pharmacologic or surgical interventions, BEB treatments are not completely efficacious and only symptomatic. We could develop principled strategies for preventing and reversing the disease if we knew the pathogenesis of primary BEB. The objective of this study was to develop a conceptual framework and dynamic circuit hypothesis for the pathogenesis of BEB...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28323682/relationship-of-cognitive-function-to-motor-symptoms-and-mood-disorders-in-patients-with-isolated-dystonia
#6
Jennifer A Foley, R Saman Vinke, Patricia Limousin, Lisa Cipolotti
OBJECTIVE: To investigate the relationship of dystonia symptoms to cognitive function by comparing cognitive performance in patients with focal (cervical) and generalized dystonia subtypes and examining the differential contributions of severity of symptoms and mood disorders to cognition. BACKGROUND: Studies of the nonmotor syndrome in isolated dystonia have reported evidence of cognitive dysfunction, but the cause of this impairment remains unclear. Several studies have suggested that poor cognitive performance reflects the distracting effects of the motor symptoms and/or a mood disorder...
March 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28321203/clinical-and-epidemiological-correlates-of-task-specific-dystonia-in-a-large-cohort-of-brazilian-music-players
#7
Rita C Moura, Patrícia Maria de Carvalho Aguiar, Graziela Bortz, Henrique Ballalai Ferraz
Musician's dystonia is a task-specific dystonia (TSD) worldwide disabling disorder, and most of the affected individuals may have severe difficulty to play their instrument. Many professional music players may have to quit working as a player. The objective of the present study was to evaluate the clinical characteristics and frequency of TSD in Brazilian music players and to promote awareness of this condition among musicians. We visited orchestras and music schools delivering lectures on TSD and about the scope of our survey...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28316586/spatial-and-temporal-high-processing-of-visual-and-auditory-stimuli-in-cervical-dystonia
#8
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/28314910/the-relationship-between-the-dopaminergic-system-and-depressive-symptoms-in-cervical-dystonia
#9
E Zoons, M A J Tijssen, Y E M Dreissen, J D Speelman, M Smit, J Booij
PURPOSE: Cervical dystonia (CD) is associated with tremor/jerks (50%) and psychiatric complaints (17-70%). The dopaminergic system has been implicated in the pathophysiology of CD in animal and imaging studies. Dopamine may be related to the motor as well as non-motor symptoms of CD. CD is associated with reduced striatal dopamine D2/3 (D2/3) receptor and increased dopamine transporter (DAT) binding. There are differences in the dopamine system between CD patients with and without jerks/tremor and psychiatric symptoms...
March 17, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28304188/the-effect-of-unilateral-thalamic-deep-brain-stimulation-on-the-vocal-dysfunction-in-a-patient-with-spasmodic-dysphonia-interrogating-cerebellar-and-pallidal-neural-circuits
#10
Anujan Poologaindran, Zurab Ivanishvili, Murray D Morrison, Linda A Rammage, Mini K Sandhu, Nancy E Polyhronopoulos, Christopher R Honey
Spasmodic dysphonia (SD) is a neurological disorder of the voice where a patient's ability to speak is compromised due to involuntary contractions of the intrinsic laryngeal muscles. Since the 1980s, SD has been treated with botulinum toxin A (BTX) injections into the throat. This therapy is limited by the delayed-onset of benefits, wearing-off effects, and repeated injections required every 3 months. In a patient with essential tremor (ET) and coincident SD, the authors set out to quantify the effects of thalamic deep brain stimulation (DBS) on vocal function while investigating the underlying motor thalamic circuitry...
March 17, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28299530/in-depth-characterization-of-the-homodimerization-domain-of-the-transcription-factor-thap1-and-dystonia-causing-mutations-therein
#11
Alev Richter, Ronja Hollstein, Eva Hebert, Franca Vulinovic, Juliane Eckhold, Alma Osmanovic, Reinhard Depping, Frank J Kaiser, Katja Lohmann
Mutations in the THAP1 gene encoding the transcription factor THAP1 have been shown to cause DYT6 dystonia. THAP1 contains a highly conserved THAP zinc finger at its N-terminal region which allows specific binding to its target sequences as well as a coiled-coil domain (amino acids 139-190) towards its C-terminus postulated as a protein-protein-binding motif. While several DYT6-causing mutations within the THAP domain were shown to decrease THAP1 activity in transcriptional regulation and DNA-binding, the role of mutations within the coiled-coil domain is rather unknown...
March 15, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28297686/-early-experience-with-the-vercise-sup-tm-sup-dbs-system-in-the-treatment-of-dystonic-tremor
#12
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/28295203/pla2g6-mutations-associated-with-a-continuous-clinical-spectrum-from-neuroaxonal-dystrophy-to-hereditary-spastic-paraplegia
#13
Burcak Ozes, Nazan Karagoz, Rebecca Schüle, Adriana Rebelo, María-Jesús Sobrido, Florian Harmuth, Matthis Synofzik, Samuel Ignacio Pascual Pascual, Melek Colak, Beyza Ciftci-Kavaklioglu, Batuhan Kara, Andrés Ordóñez-Ugalde, Beatriz Quintáns, Michael A Gonzalez, Aysun Soysal, Stephan Zuchner, Esra Battaloglu
PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are two groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in three families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial MRI...
March 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28294072/cefixime-induced-oromandibular-dystonia-in-an-adult-a-case-report
#14
Lisa Mondet, Fanny Radoubé, Valérie Gras, Kamel Masmoudi
INTRODUCTION: Cefixime, a third-generation cephalosporin, is commonly used in different infections. Tolerance is pretty good even if some side effects can be frequent like digestive disorders. Other effects, not mentioned in the Summary of Product Characteristics, can occur. METHODS: We report a case of recurrent, acute oromandibular dystonia in a cefixime-treated adult. CASE-REPORT: After the third dose of cefixime, prescribed for a bronchial infection, a patient experienced a first episode of oromandibular dystonia...
March 9, 2017: Current Drug Safety
https://www.readbyqxmd.com/read/28293679/research-conference-summary-from-the-2014-international-task-force-on-atp1a3-related-disorders
#15
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, Dominic Poncelin, Sandra Reyna, Masayuki Sasaki, Marcio Sotero de Menezes, Kathleen Sweadner, Louis Viollet, Mary Zupanc, Kenneth Silver, Kathryn Swoboda
OBJECTIVE: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28291301/-acute-dystonia-due-to-aripiprazole-use-in-two-children-with-autism-spectrum-disorder-in-the-first-five-years-of-life
#16
Mustafa Küçükköse, Bürge Kabukçu Başay
Autism spectrum disorders (ASD) are neuropsychiatric disorders characterized by impairment in social interactions, in verbal and non-verbal communication, and restricted and stereotyped patterns of interest and behavior within the first 3 years of life. Pharmacologic interventions may be needed for the treatment of temper tantrums, aggression, hyperactivity, and stereotypes in children with ASD. The approval of aripiprazole by the United States Food and Drug Administration (USFDA) for the treatment of temper tantrums in children and adolescents with ASD has gained increased interest for the use in these patients...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28291215/-complications-of-intrathecal-baclofen-therapy
#17
D L Paskhin, A V Dekopov, A A Tomsky, E D Isagulyan, E M Salova
AIM: To analyze complications of intrathecal baclofen therapy and identify high-risk groups. MATERIAL AND METHODS: We implanted 52 pumps to spastic patients for chronic intrathecal baclofen infusion. Two groups of patients were distinguished: 23 patients with spinal spasticity (group 1) and 29 patients with cerebral spasticity (group 2). The mean patient age was 37.2±14.6 years in group 1 and 17.3±10.3 years in group 2. Surgery was performed according to a standard procedure...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28286494/clinical-practice-evidence-based-recommendations-for-the-treatment-of-cervical-dystonia-with-botulinum-toxin
#18
REVIEW
Maria Fiorella Contarino, Joost Van Den Dool, Yacov Balash, Kailash Bhatia, Nir Giladi, Johannes H Koelman, Annemette Lokkegaard, Maria J Marti, Miranda Postma, Maja Relja, Matej Skorvanek, Johannes D Speelman, Evelien Zoons, Joaquim J Ferreira, Marie Vidailhet, Alberto Albanese, Marina A J Tijssen
Cervical dystonia (CD) is the most frequent form of focal dystonia. Symptoms often result in pain and functional disability. Local injections of botulinum neurotoxin are currently the treatment of choice for CD. Although this treatment has proven effective and is widely applied worldwide, many issues still remain open in the clinical practice. We performed a systematic review of the literature on botulinum toxin treatment for CD based on a question-oriented approach, with the aim to provide practical recommendations for the treating clinicians...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28283962/update-on-the-genetics-of-dystonia
#19
REVIEW
Katja Lohmann, Christine Klein
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the development of a new classification and nomenclature for inherited dystonias. In addition, new findings from both in vivo and in vitro studies have been published on the role of previously known dystonia genes, extending our understanding of the pathophysiology of dystonia. We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE...
March 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28282629/manganese-exposure-and-neurotoxic-effects-in-children
#20
REVIEW
Geir Bjørklund, Max Stanley Chartrand, Jan Aaseth
Manganese (Mn) is the fifth most abundant metal on earth. Although it is a well understood essential trace element, in excess, Mn is neurotoxic. Initial toxic symptoms associated with Mn are of psychiatric nature and are clinically defined as locura manganica. Neurological signs of Mn toxicity include dystonia, progressive bradykinesia, and disturbance of gait, slurring, and stuttering of speech with diminished volume. Studies indicate that children who ingested Mn in the drinking water (WMn) at or above a level of 0...
May 2017: Environmental Research
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