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Dystonia review

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https://www.readbyqxmd.com/read/29649646/simultaneous-treatment-of-epilepsy-and-secondary-dystonia-after-anterior-temporal-lobectomy-and-amygdalohippocampectomy
#1
Lily Rasouli, Jonathan J Rasouli, Fedor Panov, Ji Yeoun Yoo, Patricia E McGoldrick, Saadi Ghatan
BACKGROUND: The relationship between temporal lobe epilepsy and focal limb dystonia is a well-recognized phenomenon, yet its pathogenesis and anatomical foundation are not well understood. Here, we describe two patients with refractory focal epilepsy and contralateral focal limb dystonia whose seizures and dystonic symptoms simultaneously resolved after anterior temporal lobectomy and amygdalohippocampectomy (ATLAH). CASE DESCRIPTION: We identified two patients within the Mount Sinai Health system with improvement in dystonia after medial temporal lobectomy...
April 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29644727/genotype-phenotype-relations-for-the-parkinson-s-disease-genes-parkin-pink1-dj1-mdsgene-systematic-review
#2
REVIEW
Meike Kasten, Corinna Hartmann, Jennie Hampf, Susen Schaake, Ana Westenberger, Eva-Juliane Vollstedt, Alexander Balck, Aloysius Domingo, Franca Vulinovic, Marija Dulovic, Ingo Zorn, Harutyun Madoev, Hanna Zehnle, Christina M Lembeck, Leopold Schawe, Jennifer Reginold, Jana Huang, Inke R König, Lars Bertram, Connie Marras, Katja Lohmann, Christina M Lill, Christine Klein
This first comprehensive MDSGene review is devoted to the 3 autosomal recessive Parkinson's disease forms: PARK-Parkin, PARK-PINK1, and PARK-DJ1. It followed MDSGene's standardized data extraction protocol and screened a total of 3652 citations and is based on fully curated phenotypic and genotypic data on >1100 patients with recessively inherited PD because of 221 different disease-causing mutations in Parkin, PINK1, or DJ1. All these data are also available in an easily searchable online database (www...
April 11, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29582587/disrupted-striatal-neuron-inputs-and-outputs-in-huntington-s-disease
#3
REVIEW
Anton Reiner, Yun-Ping Deng
Huntington's disease (HD) is a hereditary progressive neurodegenerative disorder caused by a CAG repeat expansion in the gene coding for the protein huntingtin, resulting in a pathogenic expansion of the polyglutamine tract in the N-terminus of this protein. The HD pathology resulting from the mutation is most prominent in the striatal part of the basal ganglia, and progressive differential dysfunction and loss of striatal projection neurons and interneurons account for the progression of motor deficits seen in this disease...
April 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29562549/cannabinoids-for-treatment-of-dystonia-in-huntington-s-disease
#4
Carsten Saft, Sarah Maria von Hein, Thomas Lücke, Charlotte Thiels, Marina Peball, Atbin Djamshidian, Beatrice Heim, Klaus Seppi
BACKGROUND: Motor symptoms in Huntington's disease (HD) are heterogeneous with dystonia being described as a symptom with a very high prevalence not only in juvenile cases. OBJECTIVE: Treatment options for dystonia are limited. Cannabinoids have been described as a potential treatment for patients with dystonia of a different origin. Here, we present early onset HD patients with a marked improvement of motor symptoms mainly due to alleviation of dystonia due to treatment with cannabinoids...
March 16, 2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29561731/paraneoplastic-movement-disorders
#5
Karolina Popławska-Domaszewicz, Jolanta Florczak-Wyspiańska, Wojciech Kozubski, Sławomir Michalak
Paraneoplastic movement disorders are rare, autoimmune-mediated, nonmetastatic complications of malignant neoplasms. Common paraneoplastic movement disorders include paraneoplastic chorea, dystonia, cerebellar degeneration, different types of encephalitis, opsoclonus-myoclonus syndrome, stiff person syndrome, and neuromyotonia. Syndromes usually develop before tumor diagnosis, have subacute onset, and are associated with serum or cerebrospinal fluid antibodies. Two types of antibodies can be distinguished: antibodies against nuclear and cytoplasmic neuronal antigens (anti-Hu, anti-Ri, anti-Yo, anti-Ma, anti-CV2/CRMP5, anti-Gephrin, and anti-GABATRAP) and antibodies recently identified against cell surface and synaptic proteins (anti-NMDAR, anti-LGI1, and anti-Caspr2)...
March 21, 2018: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29558564/systems-approaches-to-optimizing-deep-brain-stimulation-therapies-in-parkinson-s-disease
#6
REVIEW
Sabato Santaniello, John T Gale, Sridevi V Sarma
Over the last 30 years, deep brain stimulation (DBS) has been used to treat chronic neurological diseases like dystonia, obsessive-compulsive disorders, essential tremor, Parkinson's disease, and more recently, dementias, depression, cognitive disorders, and epilepsy. Despite its wide use, DBS presents numerous challenges for both clinicians and engineers. One challenge is the design of novel, more efficient DBS therapies, which are hampered by the lack of complete understanding about the cellular mechanisms of therapeutic DBS...
March 20, 2018: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
https://www.readbyqxmd.com/read/29527184/how-many-types-of-dystonia-pathophysiological-considerations
#7
REVIEW
Angelo Quartarone, Diane Ruge
Dystonia can be seen in a number of different phenotypes that may arise from different etiologies. The pathophysiological substrate of dystonia is related to three lines of research. The first postulate a loss of inhibition which may account for the excess of movement and for the overflow phenomena. A second abnormality is sensory dysfunction which is related to the mild sensory complaints in patients with focal dystonias and may be responsible for some of the motor dysfunction. Finally, there are strong pieces of evidence from animal and human studies suggesting that alterations of synaptic plasticity characterized by a disruption of homeostatic plasticity, with a prevailing facilitation of synaptic potentiation may play a pivotal role in primary dystonia...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29506749/tardive-syndromes
#8
REVIEW
Daniel Savitt, Joseph Jankovic
Tardive syndromes are a group of hyperkinetic and hypokinetic movement disorders that occur after some delay following exposure to dopamine receptor blocking agents such as antipsychotic and anti-emetic drugs. The severity of these disorders ranges from mild to disabling or even life-threatening. There is a wide range of recognized tardive phenomenologies that may occur in isolation or in combination with each other. These phenomenologies include stereotypy, dystonia, chorea, akathisia, myoclonus, tremor, tics, gait disorders, parkinsonism, ocular deviations, respiratory dyskinesia, and a variety of sensory symptoms...
February 5, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29503332/expanding-indications-for-deep-brain-stimulation
#9
Paresh K Doshi
It has been three decades since the first application of deep brain stimulation (DBS) for tremors was described by Benabid. Over the years, the indications for the performance of DBS have been expanding. There are now more than 1,50,000 patients around the world who have undergone DBS for various disorders. The main appeal of DBS is in its reversibility and titratability. Though the initial interest in DBS was for pain, the main indications for DBS have been movement disorders. Despite its wide appeal and "perceived" advantage, United States Food and Drug Administration, the nodal agency for approving therapies, has been cautious and guarded in providing approvals...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29503327/dystonia-a-review
#10
REVIEW
Amit Batla
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions that cause abnormal repetitive movements, abnormal postures, or both. The new consensus classifies dystonia into two axes to characterize clinical characteristics, and etiology. This system allows correct identification of isolated and combined forms of dystonia and retains the description of generalized and focal dystonia which is very useful in planning investigations and management. The characterization of dystonia for its better identification and a brief overview of its management are discussed in this article...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29498153/a-novel-mutation-in-slc39a14-causing-hypermanganesemia-associated-with-infantile-onset-dystonia
#11
Monica Juneja, Uzma Shamim, Aditi Joshi, Aradhna, Bharathram Uppili, Smitha Sairam, Sakshi Ambawat, Rashmi Dixit, Mohammed Faruq
INTRODUCTION: Mutations in SLC39A14 have recently been known to cause a recessive disorder of manganese metabolism that manifest as childhood onset progressive neurodegeneration characterized by parkinsonism and dystonia. AIM: To genetically investigate a case of hypermanganesemia. RESULTS: We describe a family where an affected child with history of progressive neurodegeneration showed symptoms of dystonia with increased levels of blood manganese and altered signal intensities in globus pallidus and dentate nucleus...
March 2, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29494321/clinical-practice-guideline-hoarseness-dysphonia-update
#12
Robert J Stachler, David O Francis, Seth R Schwartz, Cecelia C Damask, German P Digoy, Helene J Krouse, Scott J McCoy, Daniel R Ouellette, Rita R Patel, Charles Charlie W Reavis, Libby J Smith, Marshall Smith, Steven W Strode, Peak Woo, Lorraine C Nnacheta
Objective This guideline provides evidence-based recommendations on treating patients who present with dysphonia, which is characterized by altered vocal quality, pitch, loudness, or vocal effort that impairs communication and/or quality of life. Dysphonia affects nearly one-third of the population at some point in its life. This guideline applies to all age groups evaluated in a setting where dysphonia would be identified or managed. It is intended for all clinicians who are likely to diagnose and treat patients with dysphonia...
March 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29494316/clinical-practice-guideline-hoarseness-dysphonia-update-executive-summary
#13
Robert J Stachler, David O Francis, Seth R Schwartz, Cecelia C Damask, German P Digoy, Helene J Krouse, Scott J McCoy, Daniel R Ouellette, Rita R Patel, Charles Charlie W Reavis, Libby J Smith, Marshall Smith, Steven W Strode, Peak Woo, Lorraine C Nnacheta
Objective This guideline provides evidence-based recommendations on treating patients presenting with dysphonia, which is characterized by altered vocal quality, pitch, loudness, or vocal effort that impairs communication and/or quality of life. Dysphonia affects nearly one-third of the population at some point in its life. This guideline applies to all age groups evaluated in a setting where dysphonia would be identified or managed. It is intended for all clinicians who are likely to diagnose and treat patients with dysphonia...
March 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29490197/basic-and-translational-neuroscience-of-childhood-onset-dystonia-a-control-theory-perspective
#14
Terence D Sanger
Dystonia is a collection of symptoms with involuntary muscle activation causing hypertonia, hyperkinetic movements, and overflow. In children, dystonia can have numerous etiologies with varying neuroanatomic distribution. The semiology of dystonia can be explained by gain-of-function failure of a feedback controller that is responsible for stabilizing posture and movement. Because postural control is maintained by a widely distributed network, many different anatomic regions may be responsible for symptoms of dystonia, although all features of dystonia can be explained by uncontrolled activation or hypersensitivity of motor cortical regions that can cause increased reflex gain, inserted postures, or sensitivity to irrelevant sensory variables...
February 28, 2018: Annual Review of Neuroscience
https://www.readbyqxmd.com/read/29484265/atypical-presentation-of-dopa-responsive-dystonia-in-taiwan
#15
REVIEW
Yi Ching Weng, Chun Chieh Wang, Yih Ru Wu
The typical clinical presentation of dopa-responsive dystonia, which is also called Segawa disease, is a young age of onset, with predominance in females, diurnal fluctuation of lower limb dystonia, and fair response to low-dose levodopa. This disease has both autosomal dominant and autosomal recessive inheritance. Autosomal dominant Segawa disease is caused by GCH1 mutation on chromosome 14q22.1-q22.2. Here, we report the case of a male patient with genetically confirmed Segawa disease and atypical presentations including no diurnal symptom fluctuation and insufficient response to levodopa...
February 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29480513/-myths-and-evidence-on-the-use-of-botulinum-toxin-neuropharmacology-and-dystonia
#16
P J Garcia-Ruiz, P Sanz-Cartagena, J C Martinez-Castrillo, B Ares-Pensado, I Aviles-Olmos, M Blazquez-Estrada, S Fanjul-Arbos, J Garcia-Caldentey, J Gazulla, J Gutierrez-Garcia, B Huete-Anton, C Lucas-Rodenas, M R Luquin, I Martinez-Torres, P Medialdea-Natera, A Mendoza-Rodriguez, P Mir-Rivera, I J Posada, J Ruiz-Martinez, P Sanchez-Alonso, J M Trejo-Gabriel Y Galan, L Vela, J L Pena-Segura
INTRODUCTION: Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. AIM: To analyze and summarize different questions about the use of BTA in our clinical practice. DEVELOPMENT: A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia...
March 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29478149/botulinum-toxin-treatment-of-movement-disorders
#17
REVIEW
Yasaman Safarpour, Bahman Jabbari
Botulinum neurotoxins (BoNTs) are now among the most widely used therapeutic agents in clinical medicine with indications applied to the fields of movement disorders, pain disorders, and autonomic dysfunction. In this literature review, the efficacy and utility of BoNTs in the field of movement disorders are assessed using the criteria of the Guideline Development Subcommittee of the American Academy of Neurology. The literature supports a level A efficacy (established) for BoNT therapy in cervical dystonia and a level B efficacy (probably effective) for blepharospasm, hemifacial spasm, laryngeal dystonia (spasmodic dysphonia), task-specific dystonias, essential tremor, and Parkinson rest tremor...
February 24, 2018: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29454493/updating-the-recommendations-for-treatment-of-tardive-syndromes-a-systematic-review-of-new-evidence-and-practical-treatment-algorithm
#18
REVIEW
Roongroj Bhidayasiri, Onanong Jitkritsadakul, Joseph H Friedman, Stanley Fahn
BACKGROUND: Management of tardive syndromes (TS) is challenging, with only a few evidence-based therapeutic algorithms reported in the American Academy of Neurology (AAN) guideline in 2013. OBJECTIVE: To update the evidence-based recommendations and provide a practical treatment algorithm for management of TS by addressing 5 questions: 1) Is withdrawal of dopamine receptor blocking agents (DRBAs) an effective TS treatment? 2) Does switching from typical to atypical DRBAs reduce TS symptoms? 3) What is the efficacy of pharmacologic agents in treating TS? 4) Do patients with TS benefit from chemodenervation with botulinum toxin? 5) Do patients with TS benefit from surgical therapy? METHODS: Systematic reviews were conducted by searching PsycINFO, Ovid MEDLINE, PubMed, EMBASE, Web of Science and Cochrane for articles published between 2012 and 2017 to identify new evidence published after the 2013 AAN guidelines...
February 5, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29453996/systematic-review-of-botulinum-toxin-treatment-for-oromandibular-dystonia
#19
Cynthia L Comella
Oromandibular dystonia (OMD) is an isolated focal dystonia that affects the muscles of the jaw, lower face and tongue. It is a rare disorder but is associated with significant impairment in quality of life. Treatment with oral medications has not been successful. Surgical interventions, such as deep brain stimulation, may be of benefit but have not been adequately evaluated. Currently, botulinum toxin (BoNT) injections are regarded as the treatment of choice for OMD. However, the evidence supporting this is not available...
February 14, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29436738/ataxia-telangiectasia-a-review-of-movement-disorders-clinical-features-and-genotype-correlations
#20
REVIEW
Ariel Levy, Anthony E Lang
Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum of the condition has expanded. This review elaborates the expanded phenomenology, including oculomotor apraxia and immunodeficiency, and estimates the presence of each movement disorder feature from previously reported literature. Initial manifestations of Ataxia-telangiectasia include cerebellar symptoms (67%), dystonia (18%), choreoathetosis (10%), and tremor (4%), with parkinsonism and myoclonus not reported as initial features...
February 13, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
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