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Frontiers in Neurology 2023Autoimmune encephalitis (AE) is an increasingly recognized neuroinflammatory disease entity in which early detection and treatment leads to the best clinical outcomes....
BACKGROUND
Autoimmune encephalitis (AE) is an increasingly recognized neuroinflammatory disease entity in which early detection and treatment leads to the best clinical outcomes. Movement disorders occur in AE but their characteristics are not well defined.
OBJECTIVES
To identify the frequency, classification, and prognostic significance of movement disorders in AE.
METHODS
We conducted a systematic review and random-effects meta-analysis of movement disorders in cell surface antibody mediated AE. The frequency of any movement disorder as well as the classification of movement disorders in AE serotypes was determined. We looked at adults 18 years and older and included publications that described at least 10 cases. We used the following four electronic databases: Medline (Ovid), EMBASE (Ovid), APA Psychinfo, and Cochrane library.
RESULTS
A total of 1,192 titles and abstracts were reviewed. Thirty-seven studies were included in the final meta-analysis. At least one kind of movement disorder was present in 40% of the entire AE cohort, 53% with anti-NMDA receptor antibodies, 33% with anti-CASPR2 antibodies, 30% with anti-LGI1 antibodies and 13% with anti-GABA receptor antibodies. Dyskinesia was the commonest movement disorder in anti-NMDA antibody mediated AE and faciobrachial dystonic seizures were most frequent in anti-LGI1 antibody mediated AE. Patients with a movement disorder tended to have a higher mortality. The risk of bias in the included studies was mostly moderate or high.
CONCLUSION
Movement disorders are common in AE and their identification, in conjunction with other clinical and paraclinical features, may facilitate earlier diagnosis. The prognostic implications of movement disorders in AE warrant further dedicated study.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/, identifier: CRD42023386920.
PubMed: 37545714
DOI: 10.3389/fneur.2023.1225523 -
Clinical Parkinsonism & Related... 2024Task specific dystonia is a movement disorder only affecting a highly practiced skill and is found in a broad set of expert movements including in sports. Despite... (Review)
Review
INTRODUCTION
Task specific dystonia is a movement disorder only affecting a highly practiced skill and is found in a broad set of expert movements including in sports. Despite affecting many sports, there is no comprehensive review of treatment options, which is in contrast to better studied forms of task specific dystonia in musicians and writers. For this reason, studies involving an intervention to treat task specific dystonia in sports were systematically reviewed, with special attention for the quality of outcome measures.
METHODS
The PICO systematic search strategy was employed on task-specific dystonia, and all synonyms. Inclusion criteria were peer reviewed published studies pertaining to sports, studies with a measurement and/or intervention in TSD, all in English. We excluded abstracts, expert opinions, narrative review articles, unpublished studies, dissertations and studies exclusively relating to choking. We included case reports, case studies and case-control studies.
RESULTS
In April 2022 Pubmed, Embase, Web of Science, and Psychinfo were searched. Of the 7000 articles identified, 31 were included that described psychological and invasive and/or pharmacological interventions. There was a lack of formal standardized outcome measures in studies resulting in low quality evidence for the effectiveness of treatment options. A descriptive synthesis showed emotional regulation was effective, but was exclusively tried in golfers. Interventions like botulinum toxin or pharmacology had a similar effectiveness compared to studies in musicians dystonia, however there was almost no formal evidence for these treatments.
CONCLUSION
The quality of studies was low with a lack of standardized outcome measures. Future studies with larger cohorts and quantitative outcome measures are needed to improve understanding of treatments for task specific dystonia in athletes.
PubMed: 38456155
DOI: 10.1016/j.prdoa.2024.100245 -
Cureus Jan 2024Parkinson's disease (PD) is a terminal, debilitating neurodegenerative disorder typically affecting individuals over 60. It is associated with various conditions that... (Review)
Review
Parkinson's disease (PD) is a terminal, debilitating neurodegenerative disorder typically affecting individuals over 60. It is associated with various conditions that drastically affect the patient's quality of life (QoL). Although there is no cure for PD, its symptoms can be significantly improved and even resolved through different treatments. Mainstay treatments for PD include levodopa combined with carbidopa, dopamine agonists, and even deep brain stimulation (DBS) of the subthalamic nucleus. New treatment methods have emerged, such as botulinum toxin (BoNT), which further improve symptoms and, thus, the QoL of patients with PD. Botulinum toxin is a potent neurotoxin produced by that typically causes descending paralysis by suppressing acetylcholine secretion. Serotypes used to treat various disorders include serotype A (BoNT-A) and serotype B (BoNT-B). This paper aims to evaluate the outcomes of BoNT injection on different symptoms associated with PD. An extensive review using PubMed, ScienceDirect, and ProQuest articles concerning 'botulinum toxin and Parkinson's disease' was done per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, resulting in 23,803 articles. After applying strict inclusion and exclusion criteria, the total number of articles was finally 41. The results showed that movement disorders were a common occurrence in PD, consisting of tremors, dystonia, and freezing of gait (FOG), with tremors being the most common symptom. Tremors and dystonia were significantly improved following BoNT-A, correlating with significant improvements in various scales subjectively and objectively evaluating the symptoms and QoL. In contrast, FOG was not significantly improved by either BoNT-A or BoNT-B. Pain is associated with movement disorders such as PD and was the primary indication for the administration of BoNT; studies found pain and QoL were significantly improved following BoNT injection. Quality of life can also be affected by sialorrhea and overactive bladder, which often occur as the disease progresses. Injections of BoNT-A and BoNT-B were shown to significantly improve saliva production, flow rate, drooling frequency, voiding frequency, and urinary urge incontinence. Across all studies analyzed, it is evident that BoNT may have a significant effect on improving the QoL of patients suffering from PD. While research continues to find a cure or stop the progression of PD, it remains critical to continue focusing on improving patients' QoL. Future research should evaluate whether BoNT can be used to successfully treat other symptoms of PD, such as epiphora or constipation.
PubMed: 38435899
DOI: 10.7759/cureus.53309 -
BMC Neurology Feb 2024Cervical dystonia is a movement disorder typically characterized by a patterned and twisting movement of sustained or intermittent muscle contractions. Recently, new... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Cervical dystonia is a movement disorder typically characterized by a patterned and twisting movement of sustained or intermittent muscle contractions. Recently, new clinical trials are emerging, highlighting the potential benefit of physiotherapy (PT) on disease outcomes. Thus, the objective of this review is to update the effectiveness of PT on cervical dystonia disease outcomes and subsequently perform a meta-analysis.
METHODS
Interventional studies published in English with adult patients with isolated cervical dystonia following a physiotherapy program were included. Relevant articles were searched in PubMed (MEDLINE), Web of Science, and Scopus. Cochrane and Joanna Briggs Institute risk of bias checklists were used for quality reporting. Meta-analysis was done using Review Manager 5.3 statistical software and a pooled mean difference for pain was presented.
RESULTS
Fourteen articles were included in the review and two articles were included in the meta-analysis. The meta-analysis revealed that PT intervention had a significant effect on pain reduction scale (-5.00, 95% CI -6.26, -3.74) when used as an additional therapy with botulinum toxin (BoNT) injection. Additionally, findings indicate a possible positive effect of PT disease severity, disability, and quality of life.
CONCLUSIONS
Physiotherapy in addition to BoNT is recommended to decrease pain. The findings suggest a reduction of disease severity, disability, and improvement in quality of life. The variety in the type and duration of PT interventions did not allow a clear recommendation of a specific type of PT.
Topics: Adult; Humans; Torticollis; Quality of Life; Botulinum Toxins; Dystonic Disorders; Pain; Physical Therapy Modalities
PubMed: 38302911
DOI: 10.1186/s12883-023-03473-3 -
Tremor and Other Hyperkinetic Movements... 2024Subacute Sclerosing Panencephalitis (SSPE) typically presents with periodic myoclonus; however, a spectrum of movement disorders including dystonia, chorea, tremor, and... (Review)
Review
BACKGROUND
Subacute Sclerosing Panencephalitis (SSPE) typically presents with periodic myoclonus; however, a spectrum of movement disorders including dystonia, chorea, tremor, and parkinsonism have also been described. This review aims to evaluate the array of movement disorders in SSPE, correlating them with neuroimaging findings, disease stages, and patient outcomes.
METHODS
A comprehensive review of published case reports and case series was conducted on patients with SSPE exhibiting movement disorders other than periodic myoclonus. PRISMA guidelines were followed, and the protocol was registered with PROSPERO (2023 CRD42023434650). A comprehensive search of multiple databases yielded 37 reports detailing 39 patients. Dyken's criteria were used for SSPE diagnosis, and the International Movement Disorders Society definitions were applied to categorize movement disorders.
RESULTS
The majority of patients were male, with an average age of 13.8 years. Approximately, 80% lacked a reliable vaccination history, and 39% had prior measles infections. Dystonia was the most common movement disorder (49%), followed by parkinsonism and choreoathetosis. Rapid disease progression was noted in 64% of cases, with a disease duration of ≤6 months in 72%. Neuroimaging showed T2/FLAIR MR hyperintensities, primarily periventricular, with 26% affecting the basal ganglia/thalamus. Brain biopsies revealed inflammatory and neurodegenerative changes. Over half of the patients (56%) reached an akinetic mute state or died.
CONCLUSION
SSPE is associated with diverse movement disorders, predominantly hyperkinetic. The prevalence of dystonia suggests basal ganglia dysfunction.
Topics: Humans; Chorea; Dystonia; Hyperkinesis; Hypokinesia; Movement Disorders; Parkinsonian Disorders; Subacute Sclerosing Panencephalitis; Case Reports as Topic; Male; Female; Adolescent
PubMed: 38765932
DOI: 10.5334/tohm.875 -
Neurological Sciences : Official... Feb 2024Dystonia is a condition that affects the ability to control the movement and function of the body's muscles. It can cause not only physical problems, but also mental... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Dystonia is a condition that affects the ability to control the movement and function of the body's muscles. It can cause not only physical problems, but also mental problems, resulting in impaired health-related quality of life (HRQoL). However, the effect of deep brain stimulation on quality of life in acquired dystonia remains unclear.
METHODS
We conducted a systematic literature review from January 2000 to October 2022,determined the eligible studies, and performed a meta-analysis of HRQoL outcomes based on the Short-Form Health Survey-36 (SF-36) after DBS to evaluate the effects of DBS on physical and mental QoL.
RESULTS
A total of 14 studies met the inclusion criteria and were systematically reviewed. A comprehensive meta-analysis was performed for 9 studies that reported physical and psychological data or physical component summary (PCS), or mental component summary (MCS) for SF-36. The mean (SD) age at DBS implantation was 34.29 (10.3) years, and the follow-up period after implantation was 2.21 (2.80) years. The random effects model meta-analysis revealed that both physical and mental domains of the SF-36 improved following DBS. There was no statistically significant difference between the physical domains (effect size=1.34; p<0.0001) and the mental domains (effect size=1.38; p<0.0001).
CONCLUSION
This is the first meta-analysis that demonstrates significant benefits in HRQoL following DBS in patients with acquired dystonia. There were significant improvements in both physical QoL and mental QoL.
Topics: Humans; Dystonia; Quality of Life; Deep Brain Stimulation; Dystonic Disorders; Health Surveys; Treatment Outcome
PubMed: 37816931
DOI: 10.1007/s10072-023-07106-y -
BMC Bioinformatics Dec 2023Irritable bowel syndrome (IBS) is a common chronic functional gastrointestinal disorder associated with a wide range of clinical symptoms. Some researchers have used...
BACKGROUND
Irritable bowel syndrome (IBS) is a common chronic functional gastrointestinal disorder associated with a wide range of clinical symptoms. Some researchers have used cluster analysis (CA), a group of non-supervised learning methods that identifies homogenous clusters within different entities based on their similarity.
OBJECTIVE AND METHODS
This literature review aims to identify published articles that apply CA to IBS patients. We searched relevant keywords in PubMed, Embase, Web of Science, and Scopus. We reviewed studies in terms of the selected variables, participants' characteristics, data collection, methodology, number of clusters, clusters' profiles, and results.
RESULTS
Among the 14 articles focused on the heterogeneity of IBS, eight of them utilized K-means Cluster Analysis (K-means CA), four employed Hierarchical Cluster Analysis, and only two studies utilized Latent Class Analysis. Seven studies focused on clinical symptoms, while four articles examined anocolorectal functions. Two studies were centered around immunological findings, and only one study explored microbial composition. The number of clusters obtained ranged from two to seven, showing variation across the studies. Males exhibited lower symptom severity and fewer psychological findings. The association between symptom severity and rectal perception suggests that altered rectal perception serves as a biological indicator of IBS. Ultra-slow waves observed in IBS patients are linked to increased activity of the anal sphincter, higher anal pressure, dystonia, and dyschezia.
CONCLUSION
IBS has different subgroups based on different factors. Most IBS patients have low clinical severity, good QoL, high rectal sensitivity, delayed left colon transit time, increased systemic cytokines, and changes in microbial composition, including increased Firmicutes-associated taxa and depleted Bacteroidetes-related taxa. However, the number of clusters is inconsistent across studies due to the methodological heterogeneity. CA, a valuable non-supervised learning method, is sensitive to hyperparameters like the number of clusters and random initialization of cluster centers. The random nature of these parameters leads to diverse outcomes even with the same algorithm. This has implications for future research and practical applications, necessitating further studies to improve our understanding of IBS and develop personalized treatments.
Topics: Male; Humans; Irritable Bowel Syndrome; Quality of Life; Cluster Analysis; Cytokines
PubMed: 38102564
DOI: 10.1186/s12859-023-05567-8 -
Journal of Movement Disorders Mar 2024Since the release of vaccines against COVID-19, there have been reports of vaccine-related neurologic complications. This study aimed to create a descriptive systematic...
OBJECTIVES
Since the release of vaccines against COVID-19, there have been reports of vaccine-related neurologic complications. This study aimed to create a descriptive systematic review of movement disorders associated with COVID-19 vaccines.
METHODS
We described the demographics, clinical presentation, management, outcomes, and proposed patho-mechanism. A systematic review was performed according to the PRISMA guidelines. A standardized tool was used to assess the quality of the cases.
RESULTS
We have identified 8 articles that met our inclusion criteria consisting of 10 patients who developed movement disorders after vaccination. The majority were males (n = 8), with a median age of 64.5 years. The most common movement disorder was hemichorea. The rest presented with generalized chorea with myoclonus, cervical dystonia, and akathisia. Most cases responded with immunotherapy. The standardized tool used showed that most studies have a low risk of bias.
CONCLUSION
The reported incidence of vaccine-related movement disorders was low in occurrence based on available published cases that were found.
PubMed: 38500249
DOI: 10.14802/jmd.24001 -
International Journal of Molecular... May 2024The gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated... (Review)
Review
The gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported cases. Also, its role in neurodegenerative diseases, such as Parkinson's or Alzheimer's disease, is examined, as well as a brief exploration on recent proposals to develop novel therapies for these neurological diseases based on small molecules that could modulate transcriptional activity. The main characteristic shared by all patients is mild to severe developmental delay/intellectual disability. Moderate to severe disorder of the expressive and receptive language is present in at least 42%, while neuro-psychiatric issues were reported in 53% of patients. Movement disorders, including dystonia, chorea or ataxia, are described in 37% patients, although probably underestimated because of its frequent onset in late adolescence-young adulthood. Finally, epilepsy was surprisingly present in 42% of patients, being drug-resistant in three of them. The age at onset varied widely, from five months to twenty-six years, as did the classification of epilepsy, which ranged from focal epilepsy to infantile spasms or Lennox-Gastaut syndrome. Accordingly, we propose that should be considered as a first-tier target gene for the genetic diagnosis of developmental and epileptic encephalopathy.
Topics: Humans; Epilepsy; Nuclear Receptor Subfamily 4, Group A, Member 2; Developmental Disabilities; Intellectual Disability
PubMed: 38791237
DOI: 10.3390/ijms25105198 -
Heliyon Mar 2024Minimum clinically important difference MCID) is the smallest change in an outcome measure that is considered clinically meaningful. Using validated MCID thresholds for...
Bridging the gap between statistical significance and clinical relevance: A systematic review of minimum clinically important difference (MCID) thresholds of scales reported in movement disorders research.
BACKGROUND
Minimum clinically important difference MCID) is the smallest change in an outcome measure that is considered clinically meaningful. Using validated MCID thresholds for outcomes powers trials adequately to detect meaningful treatment effects, aids in their interpretation and guides development of new outcome measures.
OBJECTIVES
To provide a comprehensive summary of MCID thresholds of various symptom severity scales reported in movement disorder.
METHODS
We conducted systematic review of the literature and included studies of one or more movement disorders, and reporting MCID scales.
RESULTS
2763 reports were screened. Final review included 32 studies. Risk of bias (RoB) assessment showed most studies were of good quality. Most commonly evaluated scale was Unified Parkinson's Disease Rating Scale (UPDRS) (11 out of 32). Four studies assessing MDS-UPDRS had assessed its different sub-parts, reporting a change of 2.64,3.05,3.25 and 0.9 points to detect clinically meaningful improvement and 2.45,2.51,4.63 and 0.8 points to detect clinically meaningful worsening, for the Part I, II, III and IV, respectively. For Parts II + III, I + II + III and I + II + III + IV, MCID thresholds reported for clinically meaningful improvement were 5.73, 4.9, 6.7 and 7.1 points respectively; while those for clinically meaningful worsening were 4.7, 4.2, 5.2 and 6.3 points, respectively. MCID thresholds reported for other scales included Abnormal Involuntary Movement Scale (AIMS), Toronto Western Spasmodic Torticollis Rating Scale (TWSRS), and Burke-Fahn-Marsden Dystonia Scale (BFMD).
CONCLUSION
This review summarizes all the MCID thresholds currently reported in Movement disorders research and provides a comprehensive resource for future trials, highlighting the need for standardized and validated MCID scales in movement disorder research.
PubMed: 38439837
DOI: 10.1016/j.heliyon.2024.e26479