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Dystonia review

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https://www.readbyqxmd.com/read/27911022/membrane-defects-and-genetic-redundancy-are-we-at-a-turning-point-for-dyt1-dystonia
#1
REVIEW
Ana Cascalho, Julie Jacquemyn, Rose E Goodchild
Heterozygosity for a 3-base pair deletion (ΔGAG) in TOR1A/torsinA is one of the most common causes of hereditary dystonia. In this review, we highlight current understanding of how this mutation causes disease from research spanning structural biochemistry, cell science, neurobiology, and several model organisms. We now know that homozygosity for ΔGAG has the same effects as Tor1a(KO) , implicating a partial loss of function mechanism in the ΔGAG/+ disease state. In addition, torsinA loss specifically affects neurons in mice, even though the gene is broadly expressed, apparently because of differential expression of homologous torsinB...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27910093/headache-attributed-to-craniocervical-dystonia-a-little-known-headache
#2
Marcos Eugenio Ramalho Bezerra, Pedro Augusto Sampaio Rocha-Filho
BACKGROUND: Craniocervical dystonia is a focal or segmental dystonia in its distribution, classically known as spasmodic torticollis when in its pure cervical presentation. Although craniocervical dystonia has been recognized as a possible cause of headache since the publication of the second version of International Classification of Headache Disorders, there are few studies about this entity. METHOD: This was a narrative review. RESULTS: Craniocervical dystonia was associated with muscle pain in 67-89% of the cases...
December 2, 2016: Headache
https://www.readbyqxmd.com/read/27901258/understanding-dystonia-diagnostic-issues-and-how-to-overcome-them
#3
Sarah Camargos, Francisco Cardoso
The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the complete understanding of its pathophysiology, lack of animal models for translational studies, absence of a consistent pathological substrate and highly variable phenotypes and genotypes. The aim of this review article is to provide an overview of the clinical, neurophysiological and genetic features of dystonia that can help in the identification of this movement disorder, as well as in the differential diagnosis of the main forms of genetic dystonia...
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#4
Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P O'Brien
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement...
November 28, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27891079/contribution-of-tms-and-rtms-in-the-understanding-of-the-pathophysiology-and-in-the-treatment-of-dystonia
#5
REVIEW
Pierre Lozeron, Aurélia Poujois, Alexandra Richard, Sana Masmoudi, Elodie Meppiel, France Woimant, Nathalie Kubis
Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures, and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug's side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27885664/haloperidol-plus-promethazine-for-psychosis-induced-aggression
#6
REVIEW
Gisele Huf, Jacob Alexander, Pinky Gandhi, Michael H Allen
BACKGROUND: Health services often manage agitated or violent people, and such behaviour is particularly prevalent in emergency psychiatric services (10%). The drugs used in such situations should ensure that the person becomes calm swiftly and safely. OBJECTIVES: To examine whether haloperidol plus promethazine is an effective treatment for psychosis-induced aggression. SEARCH METHODS: On 6 May 2015 we searched the Cochrane Schizophrenia Group's Register of Trials, which is compiled by systematic searches of major resources (including MEDLINE, EMBASE, AMED, BIOSIS, CINAHL, PsycINFO, PubMed, and registries of clinical trials) and their monthly updates, handsearches, grey literature, and conference proceedings...
November 25, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27884548/infantile-neuroaxonal-dystrophy-and-pla2g6-associated-neurodegeneration-an-update-for-the-diagnosis
#7
REVIEW
Alessandro Iodice, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Gianna Bertani, Patrizia Bergonzini, Francesco Pisani, Carlo Fusco
Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving into spasticity. Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment. Phenotypic spectrum continues to evolve and genotype-phenotype correlations are currently limited...
November 21, 2016: Brain & Development
https://www.readbyqxmd.com/read/27871456/a-prognostic-factor-in-focal-hand-dystonia-typist-s-cramp-cases-and-literature-review
#8
Jee Hyun Ham, Sang Jin Kim, Sook Keun Song, Chul Hyoung Lyoo, Phil Hyu Lee, Young Ho Sohn, Suk Yun Kang
The prognosis of focal hand dystonia (FHD) remains unclear. We retrospectively studied six patients with typist's cramp in our hospitals, and five cases in the PubMed database. All of them were right-handed. We compared clinical features between simple (dystonia in only one specific task), and dystonic/progressive groups (dystonia in several and/or new tasks). The initially affected right hand ratio was significantly higher in dystonic/progressive groups than in simple group (p=0.015). Initially affected hand may be a predictor for the progression, implying that the progression may be associated with the amount of daily routine hand movements...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27865707/a-comprehensive-database-of-published-tdcs-clinical-trials-2005-2016
#9
REVIEW
Jean-Pascal Lefaucheur
Transcranial direct current stimulation (tDCS) is a technique of noninvasive cortical stimulation allowing significant modification of brain functions. Clinical application of this technique was reported for the first time in March 2005. This paper presents a detailed list of the 340 articles (excluding single case reports) which have assessed the clinical effect of tDCS in patients, at least when delivered to cortical targets. The reviewed conditions were: pain syndromes, Parkinson's disease, dystonia, cerebral palsy, post-stroke limb motor impairment, post-stroke neglect, post-stroke dysphagia, post-stroke aphasia, primary progressive aphasia, multiple sclerosis, epilepsy, consciousness disorders, Alzheimer's disease and other types of dementia, tinnitus, depression, auditory hallucinations and negative symptoms of schizophrenia, addiction and craving, autism, and attention disorders...
December 2016: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/27858372/severe-respiratory-acidosis-in-status-epilepticus-as-a-possible-etiology-of-sudden-death-in-lesch-nyhan-disease-a-case-report-and-review-of-the-literature
#10
Alison Christy, William Nyhan, Jenny Wilson
INTRODUCTION: Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism, associated with self-mutilation, dystonia, and chorea. Seizures are uncommon in LND. Patients with LND are at risk for sudden and unexpected death. The etiology of this is unknown, but appears to occur from a respiratory process. We propose that respiratory failure secondary to subclinical seizure may lead to sudden death in these patients. CASE: We report a case of an 11-year-old boy with LND who had two episodes of nocturnal gasping...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27843470/childhood-neurogenic-stuttering-due-to-bilateral-congenital-abnormality-in-globus-pallidus-a-case-report-and-review-of-the-literature
#11
Mohammad Javad Saeedi, Ebrahim Esfandiary, Mostafa Almasi Dooghaee
Objective The basal ganglia are a group of structures that act as a cohesive functional unit. They are situated at the base of the forebrain and are strongly connected with the cerebral cortex and thalamus. Some speech disorders such as stuttering can resulted from disturbances in the circuits between the basal ganglia and the language motor area of the cerebral cortex. Stuttering consists of blocks, repetitive, prolongation or cessation of speech. We present a 7.5 -year-old male child with bilateral basal ganglia lesion in globus pallidus with unclear reason...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27830106/occurrence-of-dysphagia-following-botulinum-toxin-injection-in-parkinsonism-related-cervical-dystonia-a-retrospective-study
#12
Addie Patterson, Leonardo Almeida, Christopher W Hess, Daniel Martinez-Ramirez, Michael S Okun, Ramon L Rodriguez, Valerie Rundle-Gonzalez, Aparna Wagle Shukla, Irene A Malaty
BACKGROUND: The aim was to compare the occurrence of post-injection dysphagia in parkinsonism-related cervical dystonia (PRCD) versus cervical dystonia (CD) of other etiologies (non-PRCD). A secondary objective was to explore potential clinical differences between PRCD and non-PRCD and their respective responses to botulinum toxin (BoNT). METHODS: A cross-sectional chart review was carried out of patients treated for CD with Onabotulinumtoxin A at the University of Florida...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27825543/mild-parkinsonian-features-in-dystonia-literature-review-mechanisms-and-clinical-perspectives
#13
REVIEW
Lucy Haggstrom, Paul Darveniza, Stephen Tisch
Dystonia is a hyperkinetic movement disorder that can be highly stigmatizing and disabling. Substantial evidence from animal models, neuropathological, neurophysiological, neuroimaging and clinical studies emphasizes the role of dopaminergic dysfunction in the pathophysiology of dystonia, illustrating possible pathophysiological overlap with parkinsonism. Furthermore, basal ganglia dysfunction has been implicated in the pathogenesis of dystonia, and is well established to underlie the manifestations of Parkinson's disease...
October 29, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27787939/is-failed-predictive-control-a-risk-factor-for-focal-dystonia
#14
Peter Stein, Elliot Saltzman, Kenneth Holt, Dagmar Sternad
INTRODUCTION: Task-specific focal dystonia (TSFD) is a disorder marked by degraded coordination in complex and exacting psychomotor tasks, such as musical performance. Its development is associated with prolonged and intensive practice of these tasks, but the etiology of TSFD is still unknown. The prevailing hypothesis was informed by findings in primates following repetitive simple grasping actions. This model implies, however, that complex manual tasks that yield more intricate and subtly varying sensorimotor patterns, as found in musical performance and handwriting, should be unlikely to lead to focal dystonia...
October 27, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27782297/botulinum-toxin-type-a-versus-botulinum-toxin-type-b-for-cervical-dystonia
#15
REVIEW
Gonçalo S Duarte, Mafalda Castelão, Filipe B Rodrigues, Raquel E Marques, Joaquim Ferreira, Cristina Sampaio, Austen P Moore, João Costa
BACKGROUND: This is an update of a Cochrane review first published in 2003. Cervical dystonia is the most common form of focal dystonia and is a disabling disorder characterised by painful involuntary head posturing. There are two available formulations of botulinum toxin, with botulinum toxin type A (BtA) usually considered the first line therapy for this condition. Botulinum toxin type B (BtB) is an alternative option, with no compelling theoretical reason why it might not be as- or even more effective - than BtA...
October 26, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27773422/clinical-characteristics-and-long-term-outcomes-of-movement-disorders-in-childhood-thalamic-tumors
#16
Zsila S Sadighi, Jennifer Zabrowski, Frederick A Boop, Alberto Broniscer, Amar Gajjar, Raja B Khan
BACKGROUND: We studied the outcomes of movement disorders that were associated with childhood thalamic tumors. METHODS: We retrospectively reviewed 83 children with thalamic tumors treated at our institution from 1996 to 2013 to document the incidence and outcome of movement disorders. Magnetic resonance imaging was used to analyze the involvement of thalamic nuclei, and three instruments were used to rate the severity of the disorders. RESULTS: Nine (11%) patients had one or more of the following movement disorders: postural tremor, resting tremor, ballism, dystonia, myoclonus, and athetosis...
December 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27740598/rescue-procedures-after-suboptimal-deep-brain-stimulation-outcomes-in-common-movement-disorders
#17
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
https://www.readbyqxmd.com/read/27727826/dopa-responsive-dystonia-a-case-presentation-and-literature-review
#18
Baishampayan Goswami
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27721587/tetrabenazine-spotlight-on-drug-review
#19
Navneet Kaur, Puneet Kumar, Sumit Jamwal, Rahul Deshmukh, Vinod Gauttam
BACKGROUND: Tetrabenazine (TBZ) is the only US Food and Drug Administration-approved drug for the treatment of chorea related to Huntington's disease and other hyperkinetic disorders. TBZ was first synthesized in 1950, and was then used for the treatment of psychosis. But later its potential in treating hyperkinetic disorders was proved by its ability to block vesicular monoamine transporters 2 and deplete monoamine stores. There is still lack of awareness about the therapeutic potential of this drug...
September 2016: Annals of Neurosciences
https://www.readbyqxmd.com/read/27713907/utility-of-electronic-medical-record-for-recruitment-in-clinical-research-from-rare-to-common-disease
#20
Tapan Thacker, Ashley R Wegele, Sarah Pirio Richardson
BACKGROUND: Recruitment for clinical trials is a major challenge. Movement disorders, which do not have associated diagnostic laboratory tests, may be especially prone to inaccuracy in coding. Our objective was to evaluate the accuracy of diagnostic codes such as cervical dystonia (CD) and PD in an electronic medical record. METHODS: Retrospective chart review was performed to confirm the ICD-9 diagnoses of PD, CD and diabetes mellitus type 2 (DM-2), using published clinical diagnostic criteria (PD, CD) and hemoglobin A1c ≥ 6...
September 2016: Movement Disorders Clinical Practice
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