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David A Peterson, Gwen C Littlewort, Marian S Bartlett, Antonella Macerollo, Joel S Perlmutter, H A Jinnah, Mark Hallett, Terrence J Sejnowski
OBJECTIVE: To compare clinical rating scales of blepharospasm severity with involuntary eye closures measured automatically from patient videos with contemporary facial expression software. METHODS: We evaluated video recordings of a standardized clinical examination from 50 patients with blepharospasm in the Dystonia Coalition's Natural History and Biorepository study. Eye closures were measured on a frame-by-frame basis with software known as the Computer Expression Recognition Toolbox (CERT)...
October 21, 2016: Neurology
Franziska Richter, Julia Gerstenberger, Anne Bauer, Chun-Chi Liang, Angelika Richter
Hereditary generalized dystonia is often caused by a GAG deletion in TOR1A (DYT1) that encodes for the protein torsinA. Although mutation carriers show alterations in neuronal connectivity and sensorimotor deficits, only 30% develop dystonia. Uncovering the factors triggering the dystonic symptoms and underlying pathophysiology would greatly benefit the development of more effective therapies. In DYT1 knock-in (KI) mice, the expression of torsinA mutant alters the connectivity of neurons and the function of striatal cholinergic interneurons...
October 18, 2016: Behavioural Brain Research
Rick Brandsma, Tjitske F Lawerman, Marieke J Kuiper, Roelineke J Lunsing, Huibert Burger, Deborah A Sival
AIM: To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD: In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation coefficient [ICC]) and discriminant validity of ataxia rating scales (International Cooperative Ataxia Rating Scale [ICARS], Scale for Assessment and Rating of Ataxia [SARA], and Brief Ataxia Rating Scale [BARS])...
October 21, 2016: Developmental Medicine and Child Neurology
Paola Perozzo, Adriana Salatino, Paolo Cerrato, Raffaella Ricci
Mood, anxiety, and other psychological symptoms are common in dystonic patients suffering from blepharospasm (BSP) and spasmodic torticollis (ST). Since sexual well-being is an important aspect of mental health, here, we investigated whether these patients may also experience a worsening of their sexual life. In particular, quality of sexual life was evaluated in patients suffering from BSP (N = 30), ST (N = 30), and in a control group of patient with Hemifacial spasm (HFS; N = 30), undergoing botulinum toxin type A therapy...
2016: Frontiers in Psychology
Scott A Norris, H A Jinnah, Alberto J Espay, Christine Klein, Norbert Brüggemann, Richard L Barbano, Irene Andonia C Malaty, Ramon L Rodriguez, Marie Vidailhet, Emmanuel Roze, Stephen G Reich, Brian D Berman, Mark S LeDoux, Sarah Pirio Richardson, Pinky Agarwal, Zoltan Mari, William G Ondo, Ludy C Shih, Susan H Fox, Alfredo Berardelli, Claudia M Testa, Florence Ching-Fen Cheng, Daniel Truong, Fatta B Nahab, Tao Xie, Mark Hallett, Ami R Rosen, Laura J Wright, Joel S Perlmutter
BACKGROUND: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort. METHODS: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Rachel Newby, Jane Alty, Peter Kempster
Mind-brain dualism has dominated historical commentary on dystonia, a dichotomous approach that has left our conceptual grasp of it stubbornly incomplete. This is particularly true of functional dystonia, most diagnostically challenging of all functional movement disorders, in which the question of inherent psychogenicity remains a focus of debate. Phenomenological signs considered in isolation lack the specificity to distinguish organic and nonorganic forms, and dystonia's variability has frustrated attempts to develop objective laboratory-supported standards...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Mohammad F Aljabri, Naglaa M Kamal, Moinuddin Arif, Asrar M AlQaedi, Enas Y M Santali
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family study of an index case of BTRBGD aiming to support its AR mode of inheritance, diagnose asymptomatic and missed symptomatic cases, and provide family screening with proper genetic counseling...
October 2016: Medicine (Baltimore)
Dirk Dressler, Fereshte Adib Saberi
The therapeutic efficacy of botulinum toxin (BT) can be completely blocked by formation of BT antibodies (BTAB), thus producing antibody-induced therapy failure (ABTF). One of the risk factors for this is the interval between two subsequent injection series. To prevent BTAB formation it is universally recommended not to use interinjection intervals of less than 12 weeks. However, BT's therapeutic efficacy may be considerably shorter than this interval, thus causing substantial reduction of quality of life...
October 17, 2016: Journal of Neural Transmission
Asanori Kiyuna, Norimoto Kise, Munehisa Hiratsuka, Shunsuke Kondo, Takayuki Uehara, Hiroyuki Maeda, Akira Ganaha, Mikio Suzuki
OBJECTIVES: Spasmodic dysphonia (SD) is considered a focal dystonia. However, the detailed pathophysiology of SD remains unclear, despite the detection of abnormal activity in several brain regions. The aim of this study was to clarify the pathophysiological background of SD. STUDY DESIGN: This is a case-control study. METHODS: Both task-related brain activity measured by functional magnetic resonance imaging by reading the five-digit numbers and resting-state functional connectivity (FC) measured by 150 T2-weighted echo planar images acquired without any task were investigated in 12 patients with adductor SD and in 16 healthy controls...
October 13, 2016: Journal of Voice: Official Journal of the Voice Foundation
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
October 4, 2016: Brain Stimulation
Petra Marsico, Victoria Frontzek-Weps, Julia Balzer, Hubertus J A van Hedel
The Hypertonia Assessment Tool is a 7-item instrument that discriminates spasticity, dystonia, and rigidity on 3 levels: item scores, subtype, and hypertonia diagnosis for each extremity. We quantified the inter- and intrarater reliability using Kappa statistics, Gwet's first-order agreement coefficient (both with 95% confidence interval), and percentage agreement for all levels. For validity, we compared the Hypertonia Assessment Tool subtype with the clinical diagnosis provided by the physicians. Two physiotherapists tested 45 children with neuromotor disorders...
October 14, 2016: Journal of Child Neurology
Maria Vittoria De Angelis, Roberta Di Giacomo, Antonio Di Muzio, Marco Onofrj, Laura Bonanni
BACKGROUND: Movement disorder emergencies include any movement disorder which develops over hours to days, in which failure to appropriately diagnose and manage can result in patient morbidity or mortality.Movement disorder emergencies include acute dystonia: sustained or intermittent muscle contractions causing abnormal, often repetitive, movements. Acute dystonia is a serious challenge for emergency room doctors and neurologists, because of the high probability of misdiagnosis, due to the presence of several mimickers including partial seizures, meningitis, localized tetanus, serum electrolyte level abnormalities, strychnine poisoning, angioedema, malingering, catatonia, and conversion...
October 2016: Medicine (Baltimore)
Adam M Nagy, Christopher M Tolleson
Deep brain stimulation (DBS) is a unique, functional neurosurgical therapy indicated for medication refractory movement disorders as well as some psychiatric diseases. Multicontact electrodes are placed in "deep" structures within the brain with targets varying depending on the surgical indication. An implanted programmable pulse generator supplies the electrodes with a chronic, high frequency electrical current that clinically mimics the effects of ablative lesioning techniques. DBS's efficacy has been well established for its movement disorder indications (Parkinson's disease, essential tremor, and dystonia)...
October 8, 2016: Brain Sciences
Bettina Balint, Kailash P Bhatia
No abstract text is available yet for this article.
October 14, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Ian M Paul, Kate M Reynolds, Ralph E Kauffman, William Banner, G Randall Bond, Robert B Palmer, Randy I Burnham, Jody L Green
STUDY OBJECTIVE: Dextromethorphan is the most common over-the-counter (OTC) antitussive medication. We sought to characterize adverse events associated with dextromethorphan in children <12 years old from a surveillance program of OTC cough/cold medication exposures. METHODS: This is a retrospective case series of oral exposures to dextromethorphan with ≥1 adverse event from multiple U.S. sources (National Poison Data System, FDA Adverse Event Reporting System, manufacturer safety reports, news/media, medical literature) reported between 2008 and 2014...
October 13, 2016: Clinical Toxicology
E N D'yakonova, A I Fedin, V V Makerova, V N Gorbunov
AIM: To study the efficacy of L-lysine aescinat in the treatment of vascular and microvascular disorders in patients with cerebral venous dystonia. MATERIAL AND METHODS: Sixty-eight patients, 25 male and 43 female, aged from 25 to 56 years, with disturbances of venous cerebral blood circulation and venous outflow difficulties were examined. The examination included the assessment of cerebral hemodynamics using the algorithm of complex ultrasound examinations and functional status of the microcirculation by the laser Doppler flowmetry (LDF) at baseline and 10 days after treatment with L-lysine aescinat...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Ritwika Mallik, Sitansu Sekhar Nandi
We present a case of paroxysmal kinesigenic dyskinesia (PKD) in a 21 year old girl, with no family history of similar episodes. The episodes were short (lasting less than a minute), frequent, occurring 5 to 10 times a day, self-limiting dystonia of her right upper limb precipitated by sudden movement. She also had a past history of partial seizures with secondary generalization in her childhood. She responded to phenytoin, with cessation of events after 1 month of treatment. This case impresses upon the hypothesis stating the association between seizure activity and PKD probably due to a common foci of origin...
April 2016: Journal of the Association of Physicians of India
Vikram G Shakkottai, Amit Batla, Kailash Bhatia, William T Dauer, Christian Dresel, Martin Niethammer, David Eidelberg, Robert S Raike, Yoland Smith, H A Jinnah, Ellen J Hess, Sabine Meunier, Mark Hallett, Rachel Fremont, Kamran Khodakhah, Mark S LeDoux, Traian Popa, Cécile Gallea, Stéphane Lehericy, Andreea C Bostan, Peter L Strick
A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia...
October 12, 2016: Cerebellum
Maria Fiorella Contarino, Marenka Smit, Joost van den Dool, Jens Volkmann, Marina A J Tijssen
Cervical dystonia (CD) is a movement disorder which affects daily living of many patients. In clinical practice, several unmet treatment needs remain open. This article focuses on the four main aspects of treatment. We describe existing and emerging treatment approaches for CD, including botulinum toxin injections, surgical therapy, management of non-motor symptoms, and rehabilitation strategies. The unsolved issues regarding each of these treatments are identified and discussed, and possible future approaches and research lines are proposed...
2016: Frontiers in Neurology
Yu Wang, Zi-Yuan Liu, Wan-Chen Dou, Wen-Bin Ma, Ren-Zhi Wang, Yi Guo
<strong>Objective</strong> To explore the efficacy of target positioning by preoperative CT/MRI image fusion technique in deep brain stimulation.<strong>Methods</strong> We retrospectively analyzed the clinical data and images of 79 cases (68 with Parkinson's disease, 11 with dystonia) who received preoperative CT/MRI image fusion in target positioning of subthalamic nucleus in deep brain stimulation. Deviation of implanted electrodes from the target nucleus of each patient were measured...
September 20, 2016: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
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