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Movement Disorders Clinical Practice Jun 2024
PubMed: 38863135
DOI: 10.1002/mdc3.14135 -
Physiotherapy Research International :... Jul 2024Transcranial Magnetic Stimulation (TMS) studies examining exercise-induced neuroplasticity in pain populations have produced contradictory findings. We conducted a... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Transcranial Magnetic Stimulation (TMS) studies examining exercise-induced neuroplasticity in pain populations have produced contradictory findings. We conducted a systematic review to explore how exercise impacts cortical excitability in pain populations using TMS metrics. This review aims to summarize the effect sizes and to understand their sources of heterogeneity.
METHODS
We searched multiple databases from inception to December 2022. We included randomized controlled trials (RCTs) with any type of pain population, including acute and chronic pain; exercise interventions were compared to sham exercise or other active interventions. The primary outcomes were TMS metrics, and pain intensity was the secondary outcome. Risk of bias assessment was conducted using the Cochrane tool.
RESULTS
This review included five RCTs (n = 155). The main diagnoses were fibromyalgia and cervical dystonia. The interventions included submaximal contractions, aerobic exercise, physical therapy, and exercise combined with transcranial direct current stimulation. Three studies are considered to have a high risk of bias. All five studies showed significant pain improvement with exercise. The neurophysiological data revealed improvements in cortical excitability measured by motor-evoked potentials; standardized mean difference = 2.06, 95% confidence interval 1.35-2.78, I = 19%) but no significant differences in resting motor threshold. The data on intracortical inhibition/facilitation (ICI/ICF) was not systematically analyzed, but one study (n = 45) reported higher ICI and lower ICF after exercise.
CONCLUSIONS
These findings suggest that exercise interventions positively affect pain relief by modifying corticospinal excitability, but their effects on ICI/ICF are still unclear. While the results are inconclusive, they provide a basis for further exploration in this area of research; future studies should focus on establishing standardized TMS measurements and exercise protocols to ensure consistent and reliable findings. A large-scale RCT that examines various exercise interventions and their effects on cortical excitability could offer valuable insights to optimize its application in promoting neuroplasticity in pain populations.
Topics: Humans; Cortical Excitability; Exercise Therapy; Transcranial Magnetic Stimulation; Randomized Controlled Trials as Topic; Pain Management; Evoked Potentials, Motor; Chronic Pain; Neuronal Plasticity; Exercise
PubMed: 38861661
DOI: 10.1002/pri.2102 -
BMJ Neurology Open 2024A critical first step in managing functional neurological disorder (FND) is a positive diagnosis and clear explanation using an understandable illness model....
BACKGROUND
A critical first step in managing functional neurological disorder (FND) is a positive diagnosis and clear explanation using an understandable illness model. Multidisciplinary group education sessions are one way to achieve this, with some evidence they improve understanding, confidence in diagnosis and outcomes with further treatment. In many conditions, illness perceptions and stigma affect distress, functioning, quality of life and engagement. Exploring relationships between these factors could lead to deeper understanding of the impact of education.
METHODS
Questionnaires assessing illness perceptions, quality of life, mood, anxiety, comorbidities, treatment engagement and stigma (both experienced and anticipated) were completed before, immediately and 1 month after a multidisciplinary online group education session for FND at a regional neurosciences centre. Free-text data on causal attributions and needs were also collected.
RESULTS
166 patients attended online education sessions from January 2022 to July 2023; 61 (37%) completed presession surveys, 42 (25%) completed postsession and 35 (21%) completed 1 month postsession surveys. Patients reported multiple comorbidities, poor quality of life, functioning and high levels of stigma. Illness perception scores indicated FND as threatening, mysterious and unpredictable, with low personal or treatment control over symptoms. Illness coherence/understanding (mean difference 2.27, p<0.01, 95% CI 1.22 to 4.23) and engagement (mean difference 2.42, p<0.01, 95% CI 0.46 to 4.36) increased after the session. There were no significant changes in stigma, distress, sense of control or anticipated discrimination. Free-text analysis revealed stress and trauma as the most common causal attributions, followed by physical illnesses. Patients requested personalised formulations, practical disability advice, help with explaining the condition to others (eg, employers), peer support and treatment.
CONCLUSION
Multidisciplinary group FND education sessions potentially improve patient understanding and engagement. Clinicians should consider the possible benefits of personalised formulations and linking to practical and peer support. Further work assessing illness perceptions is needed, such as adapting measures for FND.
PubMed: 38860228
DOI: 10.1136/bmjno-2024-000633 -
Cureus May 2024Meige syndrome (MS) is a cranial dystonia that involves blepharospasm and oromandibular dystonia. It can also evolve to include other adjacent muscle groups in the...
Meige syndrome (MS) is a cranial dystonia that involves blepharospasm and oromandibular dystonia. It can also evolve to include other adjacent muscle groups in the cervical region. It typically presents in middle-aged females, and while the disorder is relatively uncommon, its exact prevalence varies. Diagnosis is typically made with a thorough history and physical and workup to rule out other causes. Treatment options include medical management with gamma-aminobutyric acid (GABA) antagonists, dopamine antagonists, and anticholinergics for short-term management. Long-term treatment options are Botox and deep brain stimulation. This case report presents a 56-year-old female with a complex presentation of MS; the patient's symptoms progressed from isolated blepharospasms to involve orofacial and cervical musculature. A distinctive aspect of this case was the simultaneous presence of upper motor neuron (UMN) signs in the patient alongside acute to subacute compression fractures of the superior endplate of C7 and T3, as revealed by cervical spine imaging. Treatment with clonazepam led to significant symptomatic improvement, highlighting the importance of a multimodal approach in managing MS. This case underscores the need for careful clinical evaluation, collaboration with movement disorder specialists, and ongoing research efforts to enhance understanding and treatment of MS.
PubMed: 38860087
DOI: 10.7759/cureus.60101 -
Neurology. Genetics Apr 2024This study investigates atypical late-onset ataxia-telangiectasia (AT) cases in a Korean family, diagnosed via Nanopore long-read sequencing, diverging from the typical...
OBJECTIVES
This study investigates atypical late-onset ataxia-telangiectasia (AT) cases in a Korean family, diagnosed via Nanopore long-read sequencing, diverging from the typical early childhood onset caused by biallelic pathogenic ATM variants.
METHODS
A 52-year-old Korean woman exhibiting dystonia and tremor, with a family history of similar symptoms in her older sister, underwent comprehensive tests including routine laboratory tests, neuropsychological assessments, and neuroimaging. Genetic analysis was conducted through targeted sequencing of 29 dystonia-associated genes and Nanopore long-read sequencing to assess the configuration of 2 gene variants.
RESULTS
Routine blood tests and brain imaging studies returned normal results, except for elevated α-fetoprotein levels. Neurologic examination revealed dystonia in the face, hand, and trunk, along with cervical dystonia in the proband. Her sister exhibited similar symptoms without evident telangiectasia. Genetic testing revealed 2 heterozygous pathogenic gene variants (p.Glu2014Ter and p.Glu2052Lys). Nanopore long-read sequencing confirmed these variants were in configuration, establishing a definite molecular diagnosis in the proband.
DISCUSSION
This report expands the known clinical spectrum of AT, highlighting a familial case of atypical AT. Moreover, it underscores the clinical utility of Nanopore long-read sequencing in phasing variant haplotypes, essential for diagnosing autosomal recessive disorders, especially beneficial for cases without parental samples.
PubMed: 38854973
DOI: 10.1212/NXG.0000000000200141 -
MedRxiv : the Preprint Server For... May 2024Participation is essential to DBS research, yet circumstances that affect diverse participation remain unclear. Here we evaluate factors impacting participation in an...
OBJECTIVES
Participation is essential to DBS research, yet circumstances that affect diverse participation remain unclear. Here we evaluate factors impacting participation in an adaptive DBS study of Parkinson's disease (PD) and dystonia.
METHODS
Twenty participants were implanted with a sensing-enabled DBS device (Medtronic Summit RC+S) that allows neural data streaming in naturalistic settings and encouraged to stream as much as possible for the first five months after surgery. Using standardized baseline data obtained through neuropsychological evaluation, we compared neuropsychological and social variables to streaming hours.
RESULTS
Marital status and irritability significantly impacted streaming hours (estimate=136.7, bootstrapped ( ) =45.0 to 249.0, =0.016, and estimate=-95.1, =-159.9 to -49.2, =0.027, respectively). These variables remained significant after multivariable analysis. Composite scores on verbal memory evaluations predicted the number of hours of data streamed ( =0.284, estimate=67.7, =20.1 to 119.9, =0.019).
DISCUSSION
Verbal memory impairment, irritability, and lack of a caregiver may be associated with decreased participation. Further study of factors that impact research participation is critical to the sustained inclusion of diverse participants.
PubMed: 38854092
DOI: 10.1101/2024.05.29.24308133 -
Movement Disorders Clinical Practice Jun 2024Functional dystonia (FD) is a common subtype of functional movement disorder. FD can be readily diagnosed based on positive signs and is potentially treatable with... (Review)
Review
BACKGROUND
Functional dystonia (FD) is a common subtype of functional movement disorder. FD can be readily diagnosed based on positive signs and is potentially treatable with rehabilitation. Despite this, clinical outcomes remain variable and a gold standard approach to treatment is lacking.
CASES
Here we present four cases of axial and limb functional dystonia who were treated with integrated rehabilitation and improved. The therapy approach and clinical outcomes are described, including videos.
LITERATURE REVIEW
A literature review evaluated the published treatment strategies for the treatment of functional dystonia. Out of 338 articles, 25 were eligible for review and included mainly case reports and case series. Most patients received more than one treatment modality. Non-invasive therapies, commonly physiotherapy and psychological approaches were mostly associated with positive outcomes. Multiple treatments commonly used in dystonia were used, including botulinum toxin injections, pharmacotherapy and surgery, leading to variable outcomes.
CONCLUSION
Therapy should be personalized to the clinical presentation. In challenging cases, initiation of a multidisciplinary approach may provide benefit regardless of etiology. Pharmacotherapy should be used judiciously, and surgical therapy should be avoided.
PubMed: 38853490
DOI: 10.1002/mdc3.14121 -
Scientific Reports Jun 2024X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in...
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment. We performed wearable sensor-based analyses in XDP participants to quantitatively characterize disease phenomenology as a potential clinical trial endpoint. Wearable sensor data was collected from 10 symptomatic XDP patients and 3 healthy controls during a standardized examination. Disease severity was assessed with the Unified Parkinson's Disease Rating Scale Part 3 (MDS-UPDRS) and Burke-Fahn-Marsden dystonia scale (BFM). We collected sensor data during the performance of specific MDS-UPDRS/BFM upper- and lower-limb motor tasks, and derived data features suitable to estimate clinical scores using machine learning (ML). XDP patients were at varying stages of disease and clinical severity. ML-based algorithms estimated MDS-UPDRS scores (parkinsonism) and dystonia-specific data features with a high degree of accuracy. Gait spatio-temporal parameters had high discriminatory power in differentiating XDP patients with different MDS-UPDRS scores from controls, XDP freezing of gait, and dystonic/non-dystonic gait. These analyses suggest the feasibility of using wearable sensor data for deriving reliable clinical score estimates associated with both parkinsonian and dystonic features in a complex, combined movement disorder and the utility of motion sensors in quantifying clinical examination.
Topics: Humans; Machine Learning; Wearable Electronic Devices; Dystonic Disorders; Genetic Diseases, X-Linked; Male; Adult; Middle Aged; Parkinsonian Disorders; Severity of Illness Index; Female; Gait
PubMed: 38853162
DOI: 10.1038/s41598-024-63946-4 -
Clinical Neurophysiology : Official... May 2024In this review, different aspects of the use of clinical neurophysiology techniques for the treatment of movement disorders are addressed. First of all, these techniques... (Review)
Review
In this review, different aspects of the use of clinical neurophysiology techniques for the treatment of movement disorders are addressed. First of all, these techniques can be used to guide neuromodulation techniques or to perform therapeutic neuromodulation as such. Neuromodulation includes invasive techniques based on the surgical implantation of electrodes and a pulse generator, such as deep brain stimulation (DBS) or spinal cord stimulation (SCS) on the one hand, and non-invasive techniques aimed at modulating or even lesioning neural structures by transcranial application. Movement disorders are one of the main areas of indication for the various neuromodulation techniques. This review focuses on the following techniques: DBS, repetitive transcranial magnetic stimulation (rTMS), low-intensity transcranial electrical stimulation, including transcranial direct current stimulation (tDCS) and transcranial alternating current stimulation (tACS), and focused ultrasound (FUS), including high-intensity magnetic resonance-guided FUS (MRgFUS), and pulsed mode low-intensity transcranial FUS stimulation (TUS). The main clinical conditions in which neuromodulation has proven its efficacy are Parkinson's disease, dystonia, and essential tremor, mainly using DBS or MRgFUS. There is also some evidence for Tourette syndrome (DBS), Huntington's disease (DBS), cerebellar ataxia (tDCS), and axial signs (SCS) and depression (rTMS) in PD. The development of non-invasive transcranial neuromodulation techniques is limited by the short-term clinical impact of these techniques, especially rTMS, in the context of very chronic diseases. However, at-home use (tDCS) or current advances in the design of closed-loop stimulation (tACS) may open new perspectives for the application of these techniques in patients, favored by their easier use and lower rate of adverse effects compared to invasive or lesioning methods. Finally, this review summarizes the evidence for keeping the use of electromyography to optimize the identification of muscles to be treated with botulinum toxin injection, which is indicated and widely performed for the treatment of various movement disorders.
PubMed: 38852434
DOI: 10.1016/j.clinph.2024.05.007 -
Movement Disorders Clinical Practice Jun 2024
PubMed: 38850091
DOI: 10.1002/mdc3.14124