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Focal dystonia

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https://www.readbyqxmd.com/read/28645253/a-case-report-of-thoracolumbar-paraspinal-myopathy-as-the-cause-of-camptocormia-in-a-patient-with-atypical-parkinsonism
#1
Yoon Kim, Ahro Kim, Aryun Kim, Beomseok Jeon
BACKGROUND: Camptocormia is severe flexion of the thoracolumbar spine, exaggerated during standing and walking but minimized in supine position. Even though camptocormia is a relatively common condition during the course of Parkinson's disease, there is ongoing controversy concerning its mechanisms. The most widely accepted and yet still disputed one is dystonia. However, based on myopathic changes observed in the paraspinal muscle biopsies of some PD patients with camptocormia, the attempt to attribute camptocormia to myopathy has continued...
June 23, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28629634/-123-i-fp-cit-spect-imaging-in-blepharospasm
#2
M De Verdal, D Renard, L Collombier, G Castelnovo
INTRODUCTION: Blepharospasm is a focal dystonia characterized by involuntary cocontraction of the eyelid protractors, causing spasmodic closure of the eyelids. Apraxia of eyelid opening is caused by an inability to initiate lid opening without paralytic abnormality. Some studies suggest that patients with either pure blepharospasm or blepharospasm associated with apraxia of eyelid opening are more prone to developing Parkinson's disease. METHODS: In our study, (123)I-FP-CIT (DAT) SPECT was performed in 24 patients with either pure blepharospasm or blepharospasm associated with apraxia of eyelid opening and no signs of parkinsonism to identify dopaminergic dysfunction...
June 16, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28620630/etiology-diagnosis-and-management-of-oromandibular-dystonia-an-update-for-stomatologists
#3
REVIEW
Saeed Raoofi, Hooman Khorshidi, Maryam Najafi
Oromandibular dystonia (OMD) is a rare focal neurological disorder that affects mouth, face, and jaws. This comprehensive literature review aimed to summarize the current evidence for etiology, diagnosis, and management of OMD and assess the possibility of dental origin of the disease and dental treatment plans for these patients. Different online databases namely PubMed, Google scholar, and Scopus were searched. The keywords "oromandibular dystonia", "orofaciomandibular dystonia", "orofacial-buccal dystonia", "lingual dystonia", "jaw dystonia", "cranial dystonia", and "adult-onset facial dystonia" were searched in the title and abstract of publications from 1970 to 2016...
June 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/28602822/structure-of-the-acf7-ef-hand-gar-module-and-delineation-of-microtubule-binding-determinants
#4
Thomas R Lane, Elaine Fuchs, Kevin C Slep
Spectraplakins are large molecules that cross-link F-actin and microtubules (MTs). Mutations in spectraplakins yield defective cell polarization, aberrant focal adhesion dynamics, and dystonia. We present the 2.8 Å crystal structure of the hACF7 EF1-EF2-GAR MT-binding module and delineate the GAR residues critical for MT binding. The EF1-EF2 and GAR domains are autonomous domains connected by a flexible linker. The EF1-EF2 domain is an EFβ-scaffold with two bound Ca(2+) ions that straddle an N-terminal α helix...
May 30, 2017: Structure
https://www.readbyqxmd.com/read/28594097/functional-activity-of-the-sensorimotor-cortex-and-cerebellum-relates-to-cervical-dystonia-symptoms
#5
Roxana G Burciu, Christopher W Hess, Stephen A Coombes, Edward Ofori, Priyank Shukla, Jae Woo Chung, Nikolaus R McFarland, Aparna Wagle Shukla, Michael S Okun, David E Vaillancourt
Cervical dystonia (CD) is the most common type of focal dystonia, causing abnormal movements of the neck and head. In this study, we used noninvasive imaging to investigate the motor system of patients with CD and uncover the neural correlates of dystonic symptoms. Furthermore, we examined whether a commonly prescribed anticholinergic medication in CD has an effect on the dystonia-related brain abnormalities. Participants included 16 patients with CD and 16 healthy age-matched controls. We collected functional MRI scans during a force task previously shown to extensively engage the motor system, and diffusion and T1-weighted MRI scans from which we calculated free-water and brain tissue densities...
June 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28539879/multiple-neural-networks-malfunction-in-primary-blepharospasm-an-independent-components-analysis
#6
Xiao-Feng Huang, Meng-Ru Zhu, Ping Shan, Chen-Hui Pei, Zhan-Hua Liang, Hui-Ling Zhou, Ming-Fei Ni, Yan-Wei Miao, Guo-Qing Xu, Bing-Wei Zhang, Ya-Yin Luo
Primary blepharospasm (BPS) is a focal dystonia characterized by involuntary blinking and eyelid spasms. The pathophysiology of BPS remains unclear. Several neuroimaging studies have suggested dysfunction of sensory processing and sensorimotor integration, but the results have been inconsistent. This study aimed to determine whether patients with BPS exhibit altered functional brain connectivity and to explore possible correlations between these networks and clinical variables. Twenty-five patients with BPS and 25 healthy controls were enrolled...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28515706/research-priorities-in-limb-and-task-specific-dystonias
#7
REVIEW
Sarah Pirio Richardson, Eckart Altenmüller, Katharine Alter, Ron L Alterman, Robert Chen, Steven Frucht, Shinichi Furuya, Joseph Jankovic, H A Jinnah, Teresa J Kimberley, Codrin Lungu, Joel S Perlmutter, Cecília N Prudente, Mark Hallett
Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer's cramp, runner's dystonia, or musician's dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28510682/musician-s-focal-dystonia
#8
Joanna White
No abstract text is available yet for this article.
May 16, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28438790/psychiatric-associations-of-adult-onset-focal-dystonia-phenotypes
#9
Brian D Berman, Johanna Junker, Erika Shelton, Stefan H Sillau, H A Jinnah, Joel S Perlmutter, Alberto J Espay, Joseph Jankovic, Marie Vidailhet, Cecilia Bonnet, William Ondo, Irene A Malaty, Ramón Rodríguez, William M McDonald, Laura Marsh, Mateusz Zurowski, Tobias Bäumer, Norbert Brüggemann
BACKGROUND: Depression and anxiety frequently accompany the motor manifestations of isolated adult-onset focal dystonias. Whether the body region affected when this type of dystonia first presents is associated with the severity of these neuropsychiatric symptoms is unknown. OBJECTIVES: The aim of this study was to determine whether depression, anxiety and social anxiety vary by dystonia onset site and evaluate whether pain and dystonia severity account for any differences...
April 24, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28411331/glutaric-acidemia-type-1-a-case-of-infantile-stroke
#10
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/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)...
June 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28382611/parkinsonism-or-other-movement-disorders-presenting-as-stroke-mimics
#12
Cheng-Yang Hsieh, Chih-Hung Chen, Sheng-Feng Sung, Wen-Juh Hwang
PURPOSE: Patients with parkinsonism or other movement disorders may visit the emergency department due to acute deterioration of neurological status or consciousness disturbance. Under such circumstances, patients may be misdiagnosed as having a hyperacute stroke, i.e. stroke mimic. The purpose of the present study was to explore the clinical features and consequences of patients with parkinsonism or other movement disorders presenting as stroke mimics with activation of a stroke code...
December 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/28326032/a-dynamic-circuit-hypothesis-for-the-pathogenesis-of-blepharospasm
#13
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
#14
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/28286494/clinical-practice-evidence-based-recommendations-for-the-treatment-of-cervical-dystonia-with-botulinum-toxin
#15
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/28246967/the-cognitive-role-of-the-globus-pallidus-interna-insights-from-disease-states
#16
M J Gillies, J A Hyam, A R Weiss, C A Antoniades, R Bogacz, J J Fitzgerald, T Z Aziz, M A Whittington, Alexander L Green
The motor symptoms of both Parkinson's disease and focal dystonia arise from dysfunction of the basal ganglia, and are improved by pallidotomy or deep brain stimulation of the Globus Pallidus interna (GPi). However, Parkinson's disease is associated with a greater degree of basal ganglia-dependent learning impairment than dystonia. We attempt to understand this observation in terms of a comparison of the electrophysiology of the output of the basal ganglia between the two conditions. We use the natural experiment offered by Deep Brain Stimulation to compare GPi local field potential responses in subjects with Parkinson's disease compared to subjects with dystonia performing a forced-choice decision-making task with sensory feedback...
May 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28239516/nonmotor-symptoms-in-primary-adult-onset-cervical-dystonia-and-blepharospasm
#17
Jing Yang, Na Shao, Wei Song, Qianqian Wei, Ruwei Ou, Ying Wu, Hui-Fang Shang
BACKGROUND: The nature and frequency of nonmotor symptoms in primary adult-onset cervical dystonia (CD) and blepharospasm (BSP) patients in Chinese populations remain unknown. METHODS: Hamilton's Depression Scale (HAMD), Hamilton's Anxiety Scale (HAMA), Addenbrooke's Cognitive Examination Revised (ACE-R), Pittsburgh Sleep Quality Index and Epworth Sleepiness Scale were used to evaluate NMS in 120 patients with primary focal adult-onset dystonia (60 with BSP and 60 with CD) and 60 age-, sex-, and education level- matched healthy controls (HCs)...
February 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28217105/how-many-dystonias-clinical-evidence
#18
REVIEW
Alberto Albanese
Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical establishment of a consensus on the clinical phenomenology and the diagnostic features of dystonia syndromes. Lumping and splitting exercises have characterized this area of knowledge, and it remains largely unclear how many dystonia types we are to count. This review describes the history leading to recognize that focal dystonia syndromes are a coherent clinical set encompassing cranial dystonia (including blepharospasm), oromandibular dystonia, spasmodic torticollis, truncal dystonia, writer's cramp, and other occupational dystonias...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28215037/the-italian-dystonia-registry-rationale-design-and-preliminary-findings
#19
Giovanni Defazio, M Esposito, G Abbruzzese, C L Scaglione, G Fabbrini, G Ferrazzano, S Peluso, R Pellicciari, A F Gigante, G Cossu, R Arca, L Avanzino, F Bono, M R Mazza, L Bertolasi, R Bacchin, R Eleopra, C Lettieri, F Morgante, M C Altavista, L Polidori, R Liguori, S Misceo, G Squintani, M Tinazzi, R Ceravolo, E Unti, L Magistrelli, M Coletti Moja, N Modugno, M Petracca, N Tambasco, M S Cotelli, M Aguggia, A Pisani, M Romano, M Zibetti, A R Bentivoglio, A Albanese, P Girlanda, A Berardelli
The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy...
February 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28192488/does-dystonic-muscle-activity-affect-sense-of-effort-in-cervical-dystonia
#20
Loïc Carment, Marc A Maier, Sophie Sangla, Vincent Guiraud, Serge Mesure, Marie Vidailhet, Påvel G Lindberg, Jean-Pierre Bleton
BACKGROUND: Focal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD). We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues. METHODS: Neck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects. Subjects performed force-matching and force-maintaining tasks at 5% and 20% of maximum voluntary contraction (MVC)...
2017: PloS One
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