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https://www.readbyqxmd.com/read/28431323/transcranial-magnetic-stimulation-in-developmental-stuttering-relations-with-previous-neurophysiological-research-and-future-perspectives
#1
REVIEW
P Busan, P P Battaglini, M Sommer
Developmental stuttering (DS) is a disruption of the rhythm of speech, and affected people may be unable to execute fluent voluntary speech. There are still questions about the exact causes of DS. Evidence suggests there are differences in the structure and functioning of motor systems used for preparing, executing, and controlling motor acts, especially when they are speech related. Much research has been obtained using neuroimaging methods, ranging from functional magnetic resonance to diffusion tensor imaging and electroencephalography/magnetoencephalography...
April 3, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28426824/becoming-more-oneself-changes-in-personality-following-dbs-treatment-for-psychiatric-disorders-experiences-of-ocd-patients-and-general-considerations
#2
Sanneke de Haan, Erik Rietveld, Martin Stokhof, Damiaan Denys
Does DBS change a patient's personality? This is one of the central questions in the debate on the ethics of treatment with Deep Brain Stimulation (DBS). At the moment, however, this important debate is hampered by the fact that there is relatively little data available concerning what patients actually experience following DBS treatment. There are a few qualitative studies with patients with Parkinson's disease and Primary Dystonia and some case reports, but there has been no qualitative study yet with patients suffering from psychiatric disorders...
2017: PloS One
https://www.readbyqxmd.com/read/28424916/bilateral-pallidotomy-for-meige-syndrome
#3
Krasimir Minkin, Kaloyan Gabrovski, Petia Dimova, Rossitsa Tanova, Marin Penkov, Yuri Todorov, Kiril Romansky
Meige syndrome (MS) is usually described as a combination of blepharospasm with oromandibular dystonia. There are a large number of case reports of deep brain stimulation (DBS) of the globus pallidus internus (GPI) for MS and only one report of unilateral pallidotomy (PT). We report the first case of staged bilateral PT for treatment of a patient with MS using intraoperative high-frequency stimulation in order to predict and prevent postoperative deficit. There was a significant improvement of the Burk-Fahn-Marsden dystonia rating scale from 26 to 3...
April 19, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28419660/acute-masseter-dystonia-in-a-pediatric-patient-receiving-aripiprazole-and-methylphenidate-following-induction-of-general-anesthesia
#4
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/28413841/correlation-of-electrode-position-and-clinical-outcomes-in-globus-pallidus-stimulation-for-dystonia
#5
Hye Ran Park, Jae Min Lee, Gwanhee Ehm, Hui-Jun Yang, In Ho Song, Yong Hoon Lim, Mi-Ryoung Kim, Keyoung Ran Kim, Woong-Woo Lee, Young Eun Kim, Jae Ha Hwang, Chae Won Shin, Hyeyoung Park, Jin Wook Kim, Han-Joon Kim, Cheolyoung Kim, Dong Gyu Kim, Beom Seok Jeon, Sun Ha Paek
BACKGROUND: The correlation between the electrode location and the clinical outcome for internal globus pallidus (GPi) deep brain stimulation (DBS) has not been fully elucidated. OBJECTIVE: The aim of this study was to determine the discrepancies between the theoretical target planned by magnetic resonance imaging (MRI) and the actual electrode location in postoperative MRI, as well as to find the correlation between the final electrode locations and the clinical outcome after GPi DBS...
April 17, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28412603/impairments-of-balance-stepping-reactions-and-gait-in-people-with-cervical-dystonia
#6
Christopher Barr, Rhiannon Barnard, Lauren Edwards, Sheila Lennon, Lynley Bradnam
BACKGROUND: Impaired balance is common in neurological disorders. Cervical dystonia is a neurological movement disorder affecting the neck. The effect of this aberrant head posture on physical function is unknown. OBJECTIVES: To compare balance, mobility, gait and stepping reactions between ten people with cervical dystonia and ten control adults. METHODS: Spatiotemporal gait parameters and walking speed were assessed using a computerised walkway...
April 4, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28412499/parkinsonism-and-dystonia-are-differentially-induced-by-modulation-of-different-territories-in-the-basal-ganglia
#7
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/28411331/glutaric-acidemia-type-1-a-case-of-infantile-stroke
#8
Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş
BACKGROUND: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms. CASE REPORT: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI...
April 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28410962/determinaical-disease-synthesis-of-systematic-reviews
#9
Daniel Krewski, Caroline Barakat-Haddad, Jennifer Donnan, Rosemary Martino, Tamara Pringsheim, Helen Tremlett, Pascal van Lieshout, Stephanie J Walsh, Nicholas J Birkett, James Gomes, Julian Little, Sonya Bowen, Hamilton Candundo, Ting-Kuang Chao, Kayla Collins, James A G Crispo, Tom Duggan, Reem El Sherif, Nawal Farhat, Yannick Fortin, Janet Gaskin, Pallavi Gupta, Mona Hersi, Jing Hu, Brittany Irvine, Shayesteh Jahanfar, Don MacDonald, Kyla McKay, Andrea Morrissey, Pauline Quach, Ruksana Rashid, Sabina Shin, Lindsey Sikora, Stacey Tkachuk, Mohamed K Taher, Ming-Dong Wang, Shalu Darshan, Neil R Cashman
Systematic reviews were conducted to identify risk factors associated with the onset and progression of 14 neurological conditions, prioritized as a component of the National Population Health Study of Neurological Conditions. These systematic reviews provided a basis for evaluating the weight of evidence of evidence for risk factors for the onset and progression of the 14 individual neurological conditions considered. A number of risk factors associated with an increased risk of onset for more than one condition, including exposure to pesticides (associated with an increased risk of AD, amyotrophic lateral sclerosis, brain tumours, and PD; smoking (AD, MS); and infection (MS, Tourette syndrome)...
April 11, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28405636/when-transporters-fail-to-be-transported-how-to-rescue-folding-deficient-slc6-transporters
#10
Sonja Sucic, Ameya Kasture, H M Mazhar Asjad, Carina Kern, Ali El-Kasaby, Michael Freissmuth
The human dopamine transporter (hDAT) belongs to the solute carrier 6 (SLC6) gene family. Point mutations in hDAT (SLC6A3) have been linked to a syndrome of dopamine transporter deficiency or infantile dystonia/parkinsonism. The mutations impair DAT folding, causing retention of variant DATs in the endoplasmic reticulum and subsequently impair transport activity. The folding trajectory of DAT itself is not understood, though many insights have been gained from studies of folding-deficient mutants of the closely related serotonin transporter (SERT); i...
December 30, 2016: Journal of Neurology & Neuromedicine
https://www.readbyqxmd.com/read/28401296/associations-of-specific-psychiatric-disorders-with-isolated-focal-dystonia-and-monogenic-and-idiopathic-parkinson-s-disease
#11
Susanne Steinlechner, Johann Hagenah, Hans-Jürgen Rumpf, Christian Meyer, Ulrich John, Tobias Bäumer, Norbert Brüggemann, Meike Kasten, Alexander Münchau, Christine Klein, Rebekka Lencer
Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075)...
April 11, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28398599/hippocampal-sclerosis-and-mesial-temporal-lobe-epilepsy-in-chorea-acanthocytosis-a-case-with-clinical-pathologic-and-genetic-evaluation
#12
Karin Mente, Sun A Kim, Christopher Grunseich, Marco M Hefti, John F Crary, Adrian Danek, Barbara I Karp, Ruth H Walker
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurodegenerative disease associated with mutations in VPS13A that encodes the protein chorein. ChAc is characterized by progressive chorea, dystonia, and psychiatric symptoms, developing in young adulthood, often with acanthocytosis in peripheral blood. Tongue protrusion, or feeding dystonia, is common, as are seizures and neuropathy [1]. On neuropathology, there is basal ganglia atrophy, neuronal loss, and gliosis, especially in the caudate nucleus [2]...
April 11, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28398555/biophysical-and-functional-characterization-of-hippocalcin-mutants-responsible-for-human-dystonia
#13
Nordine Helassa, Svetlana V Antonyuk, Lu-Yun Lian, Lee P Haynes, Robert D Burgoyne
Dystonia is a neurological movement disorder that forces the body into twisting, repetitive movements or sometimes painful abnormal postures. With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). However, the effect of these mutations on the physiological role of hippocalcin has not yet been elucidated. Using a multidisciplinary approach, we demonstrated that hippocalcin oligomerises in a calcium-dependent manner and binds to voltage-gated calcium channels...
April 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28397219/-analysis-of-clinical-phenotype-and-cgh1-gene-mutations-in-a-family-affected-with-dopa-responsive-dystonia
#14
Yaping Yan, Xiaohong Chen, Wei Luo
OBJECTIVE: To explore genetic mutations and clinical features of a pedigree affected with dopa-responsive dystonia. METHODS: PCR and Sanger sequencing were applied to detect mutations of the GCH1 gene among 7 members from the pedigree. RESULTS: The family was detected to have a known heterozygous mutation of the GCH1 gene (c.550C>T). For the 7 members from the pedigree, the age of onset has ranged from 13 to 60 years. The mother of the proband has carried the same mutation but was still healthy at 80...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397151/identification-of-novel-atp7a-mutations-and-prenatal-diagnosis-in-chinese-patients-with-menkes-disease
#15
Binbin Cao, Xiaoping Yang, Yinyin Chen, Qionghui Huang, Ye Wu, Qiang Gu, Jiangxi Xiao, Huixia Yang, Hong Pan, Junya Chen, Yu Sun, Li Ren, Chengfeng Zhao, Yanhua Deng, Yanling Yang, Xingzhi Chang, Zhixian Yang, Yuehua Zhang, Zhengping Niu, Juli Wang, Xiru Wu, Jingmin Wang, Yuwu Jiang
Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24, 22, 24, and 24 patients, respectively. Serum ceruloplasmin/copper tested in 19 patients was low. Abnormal classic features of MD presented in the MRI/MRA of 19 patients. Seventeen mutations of ATP7A were identified in 22 patients. Twelve were novel mutations including three small deletion/insertion, one missense mutation, two nonsense mutations, three splicing-site mutations, and three gross deletions...
April 10, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28389991/genotype-phenotype-correlation-in-18-egyptian-patients-with-glutaric-acidemia-type-i
#16
Ahmed Mosaeilhy, Magdy M Mohamed, George Priya Doss C, Heba S A El Abd, Radwa Gamal, Osama K Zaki, Hatem Zayed
Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, dystonia and frontotemporal atrophy. In this study, we investigated 18 Egyptian patients that were diagnosed with GAI based on their clinical, neuroradiological, and biochemical profiles. Of the 18 patients, 16 had developmental delay and/or regression, dystonia was prominent in 75% of the cases, and three patients died...
April 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28389718/oscillatory-reactivity-to-effortful-cognitive-processing-in-the-subthalamic-nucleus-and-internal-pallidum-a-depth-electrode-eeg-study
#17
Martina Bočková, Jan Chládek, Pavel Jurák, Josef Halámek, Steven Z Rapcsak, Marek Baláž, Jan Chrastina, Ivan Rektor
This study investigates how complex motor-cognitive activities are processed in the subthalamic nucleus (STN) and internal globus pallidum (GPi), as adverse neuropsychiatric effects may accompany deep brain stimulation (DBS), mainly in Parkinson's disease (PD) and STN-DBS. Dystonia patients with GPi-DBS electrodes (n = 5) and PD subjects (n = 5) with STN-DBS electrodes performed two tasks: (1) copying letters; and (2) writing any letter other than that appearing on the monitor. The cognitive load of the second task was greater than that of the first...
April 7, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28389587/l-dopa-in-dystonia-a-modern-perspective
#18
Roderick P P W M Maas, Tessa Wassenberg, Jean-Pierre Lin, Bart P C van de Warrenburg, Michèl A A P Willemsen
"Every child exhibiting dystonia merits an l-dopa trial, lest the potentially treatable condition of dopa-responsive dystonia (DRD) is missed" has been a commonly cited and highly conserved adage in movement disorders literature stemming from the 1980s. We here provide a historical perspective on this statement, discuss the current diagnostic and therapeutic applications of l-dopa in everyday neurologic practice, contrast these with its approved indications, and finish with our view on both a diagnostic and therapeutic trial in children and adults with dystonia...
April 7, 2017: Neurology
https://www.readbyqxmd.com/read/28388718/abobotulinumtoxina-a-25-year-history
#19
Gary D Monheit, Andy Pickett
During the late 1960s and early 1970s, Alan Scott showed that intramuscular injections of botulinum toxin (BoNT) corrected nonaccommodative strabismus without resorting to surgery. The UK doctors who trained with Scott soon realized the significant potential offered by BoNT type A as a therapeutic option for several difficult-to-treat diseases. This led to a collaboration between these pioneering clinicians and the Centre for Applied Microbiology and Research at Porton Down, United Kingdom, and, in turn, to the development and commercialization of abobotulinumtoxinA as Dysport (Dystonia/Porton Down; Ipsen Biopharm Ltd...
May 1, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28386684/extrapyramidal-symptoms-after-exposure-to-calcium-channel-blocker-flunarizine-or-cinnarizine
#20
Kai-Ming Jhang, Jing-Yang Huang, Oswald Ndi Nfor, Yu-Chun Tung, Wen-Yuan Ku, Chun-Te Lee, Yung-Po Liaw
PURPOSE: Flunarizine (fz) and cinnarizine (cz) have well-known extrapyramidal side effects (EPSEs). The aim of this study was to evaluate the incidence and occurrence time of cz- and fz-related EPSEs. METHOD: Patients who took fz or cz for more than 1 month were identified from the longitudinal health insurance database 2005 and 2010. Excluded were patients with any of the underlying diseases that may cause parkinsonism. Drug-induced EPSEs were defined as the new diagnosis of parkinsonism, dyskinesia, or secondary dystonia during drug use or within 3 months after discontinuing the medication...
April 6, 2017: European Journal of Clinical Pharmacology
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