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Dystonia

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181. Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. (PubMed)

Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. Executive functions including behavioral adaptation and impulse control are commonly impaired in movement disorders caused by striatal pathology. However, as yet it is unclear what aspects of behavioral abnormalities are related to pathology in which striatal subcomponent, that is, the matrix and the striosomes. We therefore studied cognitive control in X-linked dystonia (...) -parkinsonism, a model disease of striosomal degeneration, using behavioral paradigms and EEG.We studied genetically confirmed X-linked dystonia-parkinsonism patients (N = 21) in their early disease stages and healthy matched controls. Error-related behavioral adaptation was tested in a flanker task and response inhibition in a Go/Nogo paradigm during EEG. We focused on error-related negativity during error processing and the Nogo-N2 and Nogo-P3 in the response inhibition task. Source localization analyses

2017 Movement Disorders

182. Acute Dystonia Versus Neuroleptic Malignant Syndrome Without Fever in an Eight-Year-Old Child. (PubMed)

Acute Dystonia Versus Neuroleptic Malignant Syndrome Without Fever in an Eight-Year-Old Child. Neuroleptic malignant syndrome (NMS) is a rare but potentially fatal complication of the use of certain medications. It is being seen more often in the pediatric population because of the increasing use of both typical and atypical antipsychotics in children. Rapid recognition of NMS is important to emergency physicians because timely treatment can be life saving. Acute dystonia is also a well-known (...) and more common adverse effect of certain types of antipsychotics, more commonly seen with the typical antipsychotics versus the atypical antipsychotics. We describe a case of a pediatric patient who developed an acute dystonic reaction versus NMS soon after starting aripiprazole. We compare this case with the other documented cases of acute dystonia and NMS after initiating aripiprazole in the pediatric population.

2017 Pediatric Emergency Care

183. The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. (PubMed)

The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. A number of genetic loci were found to be associated with dystonia. Quite a few studies have been contacted to examine possible contribution of TOR1A variants to the risk of dystonia, but their results remain conflicting. The aim of the present study was to systematically evaluate the effect of TOR1A gene SNPs on dystonia and its phenotypic subtypes regarding the body distribution.We performed a systematic (...) review of Pubmed database to identify all available studies that reported genotype frequencies of TOR1A SNPs in dystonia. In total 16 studies were included in the quantitative analysis. Odds ratios (ORs) were calculated in each study to estimate the influence of TOR1A SNPs genotypes on the risk of dystonia. The fixed-effects model and the random effects model, in case of high heterogeneity, for recessive and dominant mode of inheritance as well as the free generalized odds ratio (ORG) model were used

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2017 PloS one

184. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. (PubMed)

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin (...) ) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes. In these six affected individuals, whole-exome sequencing (WES) identified biallelic mutations in DNAJC12, which encodes a heat shock co-chaperone family member that interacts with phenylalanine, tyrosine, and tryptophan hydroxylases catalyzing

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2017 American Journal of Human Genetics

185. Dystonia treatment: Patterns of medication use in an international cohort. (PubMed)

Dystonia treatment: Patterns of medication use in an international cohort. To determine the frequency of medication use in patients with dystonia enrolled in an international biorepository study.In a cross-sectional analysis, we included 2,026 participants enrolled at 37 sites in the United States, Canada, Europe, and Australia through Project 1 of the Dystonia Coalition, an international biorepository study. The primary aim was to assess the frequency of medication classes recommended (...) for treating patients with dystonia, and the secondary aim was to compare characteristics (disease type, age, sex, duration of disease, comorbid conditions, severity).Querying the database for the presence of any medication for dystonia used (includes both injectable and oral therapy), we found 73% using medications (n = 1,488) and 27% using no dystonia medications (n = 538). Furthermore, 61% of the total sample used botulinum toxin (BoNT) therapy alone or in combination. Differences were found

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2017 Neurology

186. Motor sequence awareness in impaired in dystonia despite normal performance. (PubMed)

Motor sequence awareness in impaired in dystonia despite normal performance. Dystonia is a movement disorder that has been associated with impaired motor learning and sequence recognition. However, despite evidence that patients with dystonia have a reduced sense of agency, it is unclear whether dystonia is specifically associated with impaired recognition of a movement sequence. We have shown previously that performance consistency in the temporal and kinematic domains predicts awareness (...) of underlying motor patterns in a finger-tapping task. Since movements in dystonia are characterized by high variability, we predicted that subjects with dystonia would have decreased motor sequence awareness.Subjects with dystonia (n = 20) and healthy control adults (n = 30) performed finger-tapping sequences with a common motor pattern and changing stimulus-to-response mappings. Subjects were said to be "aware" of the motor pattern if they recognized that their fingers moved in the same order during each

2017 Annals of Neurology

187. Cognition in childhood dystonia: a systematic review. (PubMed)

Cognition in childhood dystonia: a systematic review. Cognitive impairments have been established as part of the non-motor phenomenology of adult dystonia. In childhood dystonia, the extent of cognitive impairments is less clear. This systematic review aims to present an overview of the existing literature to elucidate the cognitive profile of primary and secondary childhood dystonia.Studies focusing on cognition in childhood dystonia were searched in MEDLINE and PsychInfo up to October 2017 (...) . We included studies on idiopathic and genetic forms of dystonia as well as dystonia secondary to cerebral palsy and inborn errors of metabolism.Thirty-four studies of the initial 527 were included. Studies for primary dystonia showed intact cognition and IQ, but mild working memory and processing speed deficits. Studies on secondary dystonia showed more pronounced cognitive deficits and lower IQ scores with frequent intellectual disability. Data are missing for attention, language, and executive

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2017 Developmental Medicine and Child Neurology

188. Pallidal deep brain stimulation for dystonia: a long term study. (PubMed)

Pallidal deep brain stimulation for dystonia: a long term study. Pallidal deep brain stimulation (globus pallidus internus (GPi) DBS) is the best therapeutic option for disabling isolated idiopathic (IID) and inherited (INH) dystonia. Acquired dystonia (AD) may also benefit from GPi DBS. Efficacy and safety in the long-term remained to be established.To retrospectively assess long-term clinical outcomes and safety in dystonic patients who underwent GPi DBS.Patients were videotaped and assessed (...) preoperatively and postoperatively (1-year and at last available follow-up) using the Burke-Fahn-Marsden Dystonia Rating Scale (motor score (BFMDRS-M); disability score (BFMDRS-D)).Sixty-one patients were included (follow-up 7.9±5.9 years; range 1-20.7). In IID and INH (n=37), the BFMDRS-M improved at first (20.4±24.5; p<0.00001) and last (22.2±18.2; p<0.001) follow-ups compared with preoperatively (50.5±28.0). In AD (n=19), the BFMDRS-M ameliorated at 1-year (40.8±26.5; p<0.02) and late follow-ups (44.3

2017 Neurosurgery and Psychiatry

189. Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. (PubMed)

Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. Recent neuroimaging studies implicate nigrostriatal degeneration as a critical factor in producing late-onset parkinsonism in patients with l-dopa-responsive dystonia-causing mutations. However, postmortem anatomical studies do not reveal neurodegeneration in l-dopa-responsive dystonia patients. These contrasting findings make it unclear how parkinsonism develops in l-dopa-responsive dystonia (...) mutation carriers.We prospectively assessed motor dysfunction, responses to dopaminergic challenge, and dopamine neuron degeneration with aging in a validated knockin mouse model bearing a l-dopa-responsive dystonia-causing mutation found in humans.As l-dopa-responsive dystonia mice aged, dystonic movements waned while locomotor activity decreased and initiation of movements slowed. Despite the age-related reduction in movement, there was no evidence for degeneration of midbrain dopamine neurons

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2017 Movement Disorders

190. Botulinum toxin A for patients with orofacial dystonia: prospective, observational, single-centre study. (PubMed)

Botulinum toxin A for patients with orofacial dystonia: prospective, observational, single-centre study. The objective of this study was to demonstrate the efficacy of intramuscular botulinum toxin type A (BTX-A) as a method of controlling the symptoms of focal facial dystonia. A prospective, longitudinal, observational, pre-post (case-series) single-centre study was conducted over a period of 3 months, involving 30 patients with focal dystonia. The patients were enrolled on a first-come, first (...) of P<0.05. The average age of the study subjects was 70.9±12.7years (20 female, 10 male). The mean dose of BTX-A used was 27.4±20.5U. The mean improvement in AIMS score after treatment was 5.2±4.2. A significant correlation was found between the dose applied and the reduction in AIMS score (P<0.05). BTX-A can be used in the treatment of focal dystonia and provides reproducible results.Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All

2017 International Journal of Oral and Maxillofacial Surgery

191. Enhanced mu opioid receptor-dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia. (PubMed)

Enhanced mu opioid receptor-dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia. Mu opioid receptor activation modulates acetylcholine release in the dorsal striatum, an area deeply involved in motor function, habit formation, and reinforcement learning as well as in the pathophysiology of different movement disorders, such as dystonia. Although the role of opioids in drug reward and addiction is well established, their involvement in motor dysfunction remains (...) largely unexplored.We used a multidisciplinary approach to investigate the responses to mu activation in 2 mouse models of DYT1 dystonia (Tor1a+/Δgag mice, Tor1a+/- torsinA null mice, and their respective wild-types). We performed electrophysiological recordings to characterize the pharmacological effects of receptor activation in cholinergic interneurons as well as the underlying ionic currents. In addition, an analysis of the receptor expression was performed both at the protein and mRNA level.In

2017 Movement Disorders

192. A localized pallidal physiomarker in cervical dystonia. (PubMed)

A localized pallidal physiomarker in cervical dystonia. Deep brain stimulation (DBS) allows for direct recordings of neuronal activity from the human basal ganglia. In Parkinson's disease, a disease-specific physiomarker was identified that is now used to investigate adaptive closed-loop stimulation in first studies. In dystonia, such a physiomarker is missing.Pallidal oscillations were recorded from 153 contact pairs in 27 patients. We investigated whether power amplitudes in theta and beta (...) dystonia and may be a useful biomarker for adaptive closed-loop stimulation. Furthermore, theta oscillatory activity may have a predictive value for the clinical benefit after chronic DBS that could be used to improve intraoperative neurophysiological target mapping during electrode implantation. Ann Neurol 2017;82:912-924.© 2017 American Neurological Association.

2017 Annals of Neurology

193. Deep brain stimulation for monogenic dystonia. (PubMed)

Deep brain stimulation for monogenic dystonia. Deep brain stimulation (DBS) has recently emerged as an important management option in children with medically refractory dystonia. DBS is most commonly used, best studied, and thought to be most efficacious for a select group of childhood or adolescent onset monogenic dystonias (designated with a standard 'DYT' prefix). We review how to clinically recognize these types of dystonia and the relative efficacy of DBS for key monogenic dystonias.Though (...) used for dystonia in adults for several years, DBS has only lately been used in children. Recent evidence shows that patients with shorter duration of dystonia often experience greater benefit following DBS. This suggests that early recognition of the appropriate dystonic phenotypes and consideration of DBS in these patients may improve the management of dystonia.DBS should be considered early in patients who have medically refractory dystonia, especially for the monogenic dystonias that have

2017 Current Opinion in Pediatrics

194. Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. (PubMed)

Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. Laryngeal dystonia (LD) is a functionally specific disorder of the afferent-efferent motor coordination system producing action-induced muscle contraction with a varied phenomenology. This report of long-term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment.Our studies categorized over 1,400 (...) patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations. Patients were grouped on clinical phenotype (adductor or abductor) and genotype (sporadic and familial) and with DNA analysis and functional magnetic resonance imaging (fMRI) to investigate brain organization differences and characterize neural markers for genotype/phenotype categorization. A number of patients with alcohol-sensitive dystonia were also studied.A

2017 Laryngoscope

195. Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases. (PubMed)

Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases. 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported.Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days-33.4 years, median (...) ) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic "putaminal eye" was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment

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2017 Annals of Neurology

196. Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. (PubMed)

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, early-onset dystonia, and liver cirrhosis (HMDPC). To date, only 14 families from various ethnic groups have been reported. Here, we describe 10 patients from 7 unrelated Egyptian families with HMDPC. Markedly elevated blood Mn

2017 Clinical Genetics

197. Dysfunction in emotion processing underlies functional (psychogenic) dystonia. (PubMed)

Dysfunction in emotion processing underlies functional (psychogenic) dystonia. We sought to determine whether abnormalities in emotion processing underlie functional (psychogenic) dystonia, one of the most common functional movement disorders.Motor and emotion circuits were examined in 12 participants with functional dystonia, 12 with primary organic dystonia, and 25 healthy controls using functional magnetic resonance imaging at 4T and a finger-tapping task (motor task), a basic emotion (...) -recognition task (emotional faces task), and an intense-emotion stimuli task.There were no differences in motor task activation between groups. In the faces task, when compared with the other groups, functional dystonia patients showed areas of decreased activation in the right middle temporal gyrus and bilateral precuneus and increased activation in the right inferior frontal gyrus, bilateral occipital cortex and fusiform gyrus, and bilateral cerebellum. In the intense-emotion task, when compared

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2017 Movement Disorders

198. The direct basal ganglia pathway is hyperfunctional in focal dystonia. (PubMed)

The direct basal ganglia pathway is hyperfunctional in focal dystonia. 29087445 2018 12 02 1460-2156 140 12 2017 Dec 01 Brain : a journal of neurology Brain The direct basal ganglia pathway is hyperfunctional in focal dystonia. 3179-3190 10.1093/brain/awx263 Simonyan Kristina K Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Cho Hyun H Human Motor (...) and Stroke, National Institutes of Health, Bethesda, MD, USA. eng R01 DC011805 DC NIDCD NIH HHS United States Journal Article England Brain 0372537 0006-8950 dopamine laryngeal dystonia writer’s cramp 2017 05 11 2017 08 20 2017 11 1 6 0 2017 11 1 6 0 2017 11 1 6 0 ppublish 29087445 4566108 10.1093/brain/awx263 PMC5841143 Brain. 2006 Oct;129(Pt 10):2697-708 16854945 Laryngoscope. 2017 Jun;127(6):1402-1407 27808415 J Neurol Neurosurg Psychiatry. 2007 Mar;78(3):264-70 17185301 Curr Opin Neurol. 1998 Aug;11

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2017 Brain

199. Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? (PubMed)

Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? Dystonia is a disorder of motor programmes controlling semiautomatic movements or postures, with clinical features such as sensory trick, which suggests sensorimotor mismatch as the basis. Dystonia was originally classified as a basal ganglia disease. It is now regarded as a 'network' disorder including the cerebellum, but the exact pathogenesis being unknown. Rare autopsy studies have found pathology both in the striatum (...) and the cerebellum, and functional disorganisation was reported in the somatosensory cortex in patients. Recent animal studies showed physiologically tight disynaptic connections between the cerebellum and the striatum. We review clinical evidence in light of this new functional interaction between the cerebellum and basal ganglia, and put forward a hypothesis that dystonia is a basal ganglia disorder that can be induced by aberrant afferent inputs from the cerebellum.© Article author(s) (or their employer(s

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2017 Neurosurgery and Psychiatry

200. Alcohol improves cerebellar-learning deficit in myoclonus-dystonia - a clinical and electrophysiological investigation. (PubMed)

Alcohol improves cerebellar-learning deficit in myoclonus-dystonia - a clinical and electrophysiological investigation. To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration.Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink (...) conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0.08% (0.8g/l). The alcohol responsiveness of clinical symptoms was evaluated by 3 blinded raters with a standardized video protocol and clinical rating scales including the Unified Myoclonus Rating Scale and the Burke-Fahn-Marsden Dystonia Rating Scale.Patients showed a significantly reduced number of conditioned eyeblink responses before alcohol administration compared to controls

2017 Annals of Neurology

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