The latest medical research on Multiple Sclerosis

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about multiple sclerosis gathered by our medical AI research bot.

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Patient Perspectives on Upper-Limb Daily Function in Parkinson's Disease.

"Movement Disorders Clinical Practice

Dexterity impairments are common among people with Parkinson's disease (PWP), yet little is understood about the effect of upper-limb (UL) dysfunction on daily activity performance.

The aims were to (1) map the dexterity activities most affected and meaningful to PWP; (2) explore the associations between perceived dexterity function and disease severity, cognitive and motor UL impairments, dexterity ability, self-reported activities of daily living (ADL) function, and quality of life (QOL); (3) investigate variables explaining perceived dexterity function; and (4) examine the differences in perceived dexterity function based on dominance affectedness.

A total of 43 PWP (mean age = 70.00 years, standard deviation [SD] = 6.75) were assessed for perceived dexterity function (36-item Dexterity Questionnaire [DextQ-36]), dexterity ability (Coin Rotation Task), disease severity (modified Hoen and Yahr Scale), self-reported ADL function and motor UL impairments (Movement Disorder Society-Unified Parkinson's Disease Rating Scale), cognition (Montreal Cognitive Assessment), and QOL (Parkinson's Disease Questionnaire-39).

The leading dexterity activities participants reported as difficult and meaningful included using a touchscreen, pulling on socks, and dialing a phone. Perceived dexterity significantly correlated with self-reported ADL function (r = 0.716), QOL (r = 0.691), disease severity (r = 0.470), and dominant-hand dexterity (r = 0.432). Dexterity ability and disease severity explained 30% of perceived dexterity variance. No differences in perceived dexterity function based on dominance affectedness were found.

PWP encounter challenges in complex dexterity tasks that impact their independence. Before interventions focused on UL function are initiated, assessments of PWP should include inquiries about the meaningfulness of challenging dexterity activities.

Association of Hemispheric Asymmetry of Dopamine-Transporter Binding with Risk of Parkinsonian Depression.

"Movement Disorders Clinical Practice

Depression is the most common psychiatric disorder diagnosed in patients with Parkinson's disease (PD). A direct role in PD depression for loss of dopaminergic terminals and dopamine-transporter (DAT) expression in the striatum is revealed by many studies.

The objective was to discern the relationship between DAT neuroimaging and risk of depression in PD.

One hundred and ninety-eight PD patients (101 with depression, 97 without depression) were evaluated using an extensive protocol from 2015 to 2023. DAT availability at striatal terminals was assessed with single-photon emission computed tomography with 123I-Ioflupane. Specific binding ratio (SBR) of 123I-Ioflupane and the whole striatum asymmetry index (SASI) were calculated. Data were analyzed with univariate/multivariate models as well as receiver operating characteristic (ROC) curves.

A logistic regression model adjusting for confounding risk factors of depression indicates that SASI and PD duration are associated with the odds of having parkinsonian depression. SASI is the strongest predictor of risk of parkinsonian depression. Following ROC analysis, SASI is found to be an accurate factor for detecting parkinsonian depression because a cutoff value of 3.4895 of SASI shows good accuracy (0.813), sensitivity (81.1%), and specificity (80%). Higher SASI is also linked to more disease-related limitations in activities of daily living.

The whole SASI is the strongest predictor of risk of parkinsonian depression. The findings could be valuable in evaluating depression in PD patients.

Preferences regarding Disclosure of Risk for Parkinson's Disease in a Population-based Study.

"Movement Disorders Clinical Practice

Preferences for risk disclosure in population-based studies assessing Parkinson's disease (PD) risk have not been assessed so far.

To examine preferences for risk disclosure in a subset of the European Healthy Brain Aging (HeBA) multicenter study.

After a remote PD risk assessment, a structured pilot-questionnaire on risk disclosure was first presented to participants (≥50 years, without neurodegenerative diseases) during in-person visits at the Innsbruck study site.

From the included 81 participants (63% females, median age 65 years), 79% expressed an unconditional desire to be informed about their PD risk. Confronted with a hypothetical scenario of a positive, specific PD test, most would try to live a healthier lifestyle. Regarding future placebo-controlled disease-modification trials, 66% stated they would probably or definitely participate.

This pilot-study shows an open-minded view of participants towards disclosure of risk for future PD and a proactive attitude regarding dealing with one's risk.

Combined Habit Reversal Therapy and Acceptance and Commitment Therapy for Treatment of Tics in Tourette Syndrome: A Pilot Study of Effectiveness and Response Duration.

"Movement Disorders Clinical Practice

Few studies have examined the effectiveness and duration of mindfulness-based therapies for tics in Tourette's syndrome. This study combined habit reversal therapy (HRT) with acceptance and commitment therapy (ACT).

To evaluate the efficacy and response duration of HRT + ACT in reducing tic severity in adults with Tourette's Syndrome.

Tic severity was assessed at baseline, post-intervention, and at 6- and 12-month follow-ups using the Yale Global Tic Severity Scale (YGTSS) and video assessments. The intervention included eight weekly 1-h sessions.

Mixed-effects regression showed significant reductions in tic severity post-treatment (b = -10.36, P = 0.002), maintained at 6 months (b = -8.19, P = 0.012) and 12 months (b = -8.82, P = 0.009). Video assessments confirmed these findings.

The HRT + ACT protocol effectively reduced tic severity, with benefits lasting 12 months. These results support further trials to compare HRT + ACT with HRT alone.

Differentiating Essential and Dystonic Head Tremor: Exploring Arm Position Effects.

"Movement Disorders Clinical Practice

Head tremor poses diagnostic problems, especially when present as an isolated or predominant symptom.

To assess how maneuvers activating upper limb postural tremor can help differentiate head tremor in essential tremor (ET) from dystonic tremor (DT) in cervical dystonia.

48 patients with head tremor (25 ET, 23 DT), underwent clinical examination and accelerometric evaluation of head and upper limb tremor during routine tremor-inducing tasks.

While accelerometric power and clinical scores of head tremor did not significantly differ between patient groups, task-induced variations revealed distinctions. ET patients exhibited increased head tremor power and clinical scores during forward outstretched and lateral wing-beating arm positions, unlike DT patients. Coherence between head and upper limb tremor remained consistent. Tremor stability index showed no significant differences.

Task-induced changes in head tremor could aid in distinguishing between ET and DT. Further research is needed to refine diagnostic approaches for head tremor.

Exploring the Impact of Parkinson's Disease on Driving: A Population-Based Survey.

"Movement Disorders Clinical Practice

Persons with Parkinson's disease (PD) experience progressive motor and non-motor symptoms which may influence their ability to drive a car. This is experienced as a massive challenge by many affected individuals, for whom being able to drive a car is vital to maintain functional independence.

We assessed how the diagnosis of PD affected the possession of a driving license, how people with PD had adapted their driving style, and to what extent they had communicated about their driving ability with their healthcare professionals. We also evaluated their knowledge on insurance- and Driver and Vehicle Licensing Agency (DVLA)-related implications.

A cross-sectional 10-item survey was completed by 540 participants of a population-based cohort of persons with PD in the Netherlands (PRIME-NL study).

Participants had a mean age of 70 years and disease duration of 7.3 years. 84% possessed a valid driving license. Of those who gave up their license, this was done mostly (78%) on a voluntarily basis. Forty percent of those with a driving license adjusted their driving style. Over 50% of respondents had not discussed the impact of PD on their driving ability with their healthcare professionals. Although not compulsory by Dutch law, 52% of the respondents had informed the DVLA about their diagnosis.

This study highlights the need for information and support from healthcare professionals to proactively address driving in their clinical practice. This will help persons with PD in their efforts to maintain their driving license for as long as possible.

Differentiating Postural and Kinetic Tremor Responses to Deep Brain Stimulation in Essential Tremor.

"Movement Disorders Clinical Practice

While deep brain stimulation (DBS) targeting the ventral intermediate nucleus (VIM) of thalamus or posterior subthalamic area (PSA) can suppress forms of action tremor in people with Essential Tremor, previous studies have suggested postural tremor may respond more robustly than kinetic tremor to DBS.

In this study, we aimed to more precisely quantify the (1) onset/offset dynamics and (2) steady-state effects of VIM/PSA-DBS on postural and kinetic tremor.

Tremor data from wireless inertial measurement units were collected from 11 participants with ET (20 unilaterally assessed DBS leads). Three postural hold tasks and one kinetic task were performed with stimulation turned off, in 2-min intervals after enabling unilateral DBS at the clinician-optimized DBS setting (15 min), and in 2-min intervals following cessation of DBS (5 min).

At baseline, kinetic tremor had significantly higher amplitudes, standard deviation, and frequency than postural tremor (P < 0.001). DBS had a more robust acute effect on postural tremors (54% decrease, P < 0.001), with near immediate tremor suppression in amplitude and standard deviation, but had non-significant improvement of kinetic tremor on the population-level across the wash-in period (34% decrease). Tremor response was not equivalent between wash-in and wash-out timepoints and involved substantial individual variability including task-specific rebound or long wash-out effects.

Programming strategies for VIM/PSA-DBS should consider the individual temporal and effect size variability in postural versus kinetic tremor improvement. Improved targeting and programming strategies around VIM and PSA may be necessary to equivalently suppress both postural and kinetic tremors.

Intersection of Sleep Disorders and Parkinson Disease: Unveiling the Bidirectional Relationship.

"Movement Disorders Clinical Practice

Patients with Parkinson's Disease (PD) frequently exhibit non-motor symptoms, particularly sleep disturbances. Sleep disorders in PD patients are intricately linked to the pathogenesis and progression of PD itself, exacerbating neurodegenerative processes and worsening patient quality of life.

This review underscores the significance of sleep disorders in PD, highlighting their prevalence, impact on disease progression, and the bidirectional relationship between sleep disruption and neurodegeneration. It aims to enhance clinician awareness for better diagnosis and management of sleep-related comorbidities in PD.

A comprehensive literature search was conducted in PubMed and Scopus using key terms such as "sleep disorders", "Parkinson's disease", "REM sleep behavior disorder", "restless legs syndrome", "insomnia", "obstructive sleep apnea", "excessive daytime sleepiness", "circadian rhythm disorders", "sleep and neurodegeneration".

Sleep disorders are prevalent in PD affecting up to 90% of patients. Conditions such as insomnia, REM sleep behavior disorder, restless legs syndrome, obstructive sleep apnea, excessive daytime sleepiness, and circadian rhythm disorders are commonly reported. These disorders are linked to multifactorial biological mechanisms and are associated with more severe disease phenotypes. Of note, several evidence shows that sleep abnormalities may contribute to neuroinflammation and neurodegeneration, further accelerating the disease course.

Sleep disturbances are critical non-motor symptoms in PD. Early diagnosis and tailored management of sleep disorders are essential for improving clinical outcomes and potentially offering neuroprotective benefits.

Cranial Tremors in Essential Tremor: Prevalence, Anatomic Distribution and Predictors of Occurrence.

"Movement Disorders Clinical Practice

There are few published data on the prevalence, pattern of anatomic distribution and predictors of various cranial tremors (eg, head, voice, jaw) in essential tremor (ET). Given the high levels of diagnostic misclassification in ET, data on observed clinical patterns would be valuable.

To assess the prevalence, pattern of anatomic distribution and predictors of occurrence of cranial tremors in ET.

ET cases who enrolled in two studies (respective n's = 301 and 175, total n = 476) underwent a detailed clinical assessment, which included a videotaped neurological examination. A senior movement disorders neurologist reviewed the examination and coded a range of cranial tremors as present or absent.

The proportion of cases with any cranial tremor was 57.1% (Study 1) and 73.7% (Study 2). The following patterns emerged: (1) Head only and head + voice were the most commonly observed anatomical distribution of tremor. (2) Jaw tremors were rare, and face and tongue tremors, exceedingly rare. (3) There was a general layering-on of tremor from head to head + voice to head + voice + jaw in more advanced cases. (4) Women were more likely to have head tremors than men, although there was no sex predilection tremor in other locations. (5) The likelihood of cranial tremor increased with greater tremor severity and age but was unrelated to tremor duration.

We observed and quantified several patterns in the expression of cranial tremors in ET. Data on such patterns may assist clinicians and researchers in assigning diagnoses.

Tremor Is Highly Responsive to Levodopa in Advanced Parkinson's Disease.

"Movement Disorders Clinical Practice

Tremor in Parkinson's disease (PD) is commonly regarded as less responsive to levodopa than bradykinesia and rigidity, with levodopa-resistant PD tremor considered relatively common.

The aim was to assess the levodopa responsiveness of tremor, bradykinesia, and rigidity in a population with advanced PD.

We performed a retrospective study of 526 people with PD screened for deep brain stimulation.

Levodopa's Cohen's d effect sizes were in the same order of magnitude for the 3 cardinal motor symptoms. Proportional improvement in tremor (86.8%) was higher than bradykinesia (45.7%) and rigidity (67.0%) (P < 0.0001). Full resolution was more frequent for tremor (67.9%) than for bradykinesia (0.4%) or rigidity (24.8%) (P < 0.0001). Levodopa-unresponsive tremor, defined as improvement less than 25%, was documented only in 4.0%, as opposed to 19.4% for bradykinesia and 9.8% for rigidity (P < 0.0001).

In advanced PD, tremor was more responsive to levodopa than bradykinesia and rigidity, and levodopa-unresponsive tremor was relatively rare.

Pregnancy in Dystonia or Tourette's Patients with DBS. Fourteen News Cases and a Review of the Literature.

"Movement Disorders Clinical Practice

Deep Brain Stimulation (DBS) has been demonstrated to improve quality of life in patients with refractory dystonia and Tourette's syndrome (TS). Because of the young age at onset of these disorders, and the marked benefit from DBS, pregnancy in patients who have received DBS is becoming a more frequent clinical occurrence, although clear management guidelines are lacking.

Upon review of the literature, 23 pregnancies in patients with dystonia or TS were previously reported in seven articles.

Based on the available data from a total of 37 pregnancies, DBS does not seem associated with worse pregnancy outcome. However, careful planning and communication between neurologist, anesthesiologist and obstetrician are key. A registry on pregnancy outcome in patients with DBS should be generated to facilitate the development of guidelines.

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

"Movement Disorders Clinical Practice

Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing. The study used the InDelible structural variants calling pipeline and conducted molecular dynamic simulations on variants of uncertain significance (VUS) in ATP7B AlphaFold protein structures. Additionally, a high-throughput gene screening panel for WD was developed.

This study examined 128 clinically diagnosed cases of WD, revealing 74 genetically confirmed cases, 22 with ATP7B variants, and 32 without. Twenty-two novel ATP7B gene variants were identified, including a 322 bp deletion classified as a structural variant. Molecular dynamics simulations highlighted the potential deleterious effects of 11 ATP7B VUS. Gene burden analysis suggested associations with ANO8, LGR4, and CDC7. ATP7B gene hotspots for pathogenic variants were identified. Prevalence and carrier rates were determined as one in 18,678 and one in 67, respectively. A multiplex sequencing panel showed promise for accurate WD diagnosis.

This study offers crucial insights into WD's genetic variations and prevalence in India, addressing its underdiagnosis. It highlights the novel genetic variants in the ATP7B gene, the involvement of other genes, a scalable, cost-effective multiplex sequencing panel for WD diagnosis and management and promising advancements in WD care.