The latest medical research on Huntingtons Disease

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An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers.

Journal of Huntingtons Disease

Autonomy describes a psychological state of self-regulation of motivation and action, which is a central characteristic of healthy functioning. In neurodegenerative diseases measures of self-perception have been found to be affected by the disease. However, it has never been investigated whether measures of self-perception, like autonomy, is affected in Huntington's disease.

We investigated whether autonomy is affected in Huntington's disease and if the degree of autonomy is associated with motor function, neuropsychiatric symptoms, cognitive impairments, and apathy.

We included 44 premanifest and motor-manifest Huntington's disease gene expansion carriers and 19 controls. Autonomy was examined using two self-report questionnaires, the Autonomy-Connectedness Scale-30 and the Index of Autonomous Functioning. All participants were examined according to motor function, cognitive impairments, and neuropsychiatric symptoms, including apathy.

Statistically significant differences were found between motor-manifest Huntington's disease gene expansion carriers and premanifest Huntington's disease gene expansion carriers or controls on two measures of autonomy. Between 25-38% of motor-manifest Huntington's disease gene expansion carriers scored significantly below the normal level on subscales of autonomy as compared to controls. One autonomy subscale was associated with apathy (r = -0.65), but not with other symptoms of Huntington's disease.

This study provides evidence for impaired autonomy in individuals with Huntington's disease and an association between autonomy and apathy. The results underline the importance of maintaining patient autonomy and involvement in care throughout the disease.

Are Virtual Objective Assessments of Fall-Risk Feasible and Safe for People with Parkinson's Disease?

"Movement Disorders Clinical Practice

Falls are inherent to Parkinson's disease (PD) progression, and risk assessment is mandatory for optimal long term management.

To determine if the telehealth application of two observer-based, objective measures of fall-risk in PD-Five-Times-Sit-To-Stand (FTSTS) and 360° Rapid-Turns-Test (RTT)-is feasible and safe.

Following in-clinic training, 15 people with Hoehn and Yahr Stage 2 (n = 8) and 3 (n = 7) PD, median MoCA score 25 (range 14-29), and subjective freezing-of-gait (n = 13), participated in four televisits with care partners biweekly for 10 weeks where virtual FTSTS/RTT assessments were performed.

Participants completed all protocol-driven 120 virtual FTSTS and 60 RTT assessments with effective ratability (feasibility) and zero adverse events (safety). 22% virtual FTSTS and 55% RTT met criteria for high fall-risk designation.

Objective fall-risk assessment with virtual FTSTS and RTT through telehealth among HY2-3 PD patients, with varying motor and cognitive function, is feasible and safe following introductory in-clinic training.

Clinical Features, Neuroimaging, and Levodopa-Responsiveness in Holmes' Tremor: A Video-Based Case-Series with a Review of the Literature.

"Movement Disorders Clinical Practice

Holmes' tremor (HT) is a low-frequency tremor characterized by a combination of rest, posture, and action components. We are reporting the clinical features, neuroimaging findings, and levodopa responsiveness in 12 patients with HT.

The majority of the patients were male (11/12). Dystonia was observed in 10 patients and the remaining two patients had head tremor, a "forme-fruste" of cervical dystonia. The underlying etiologies were vascular (n = 8), head trauma (n = 2), and tumor resection (n = 2). Neuroimaging showed isolated involvement of the midbrain in four, thalamus in two, and basal ganglia and cerebellum in one patient each. A combination of the lesion (thalamus and cerebellum = 2; cerebellopontine angle = 1, and cortical/subcortical = 1) was present in four patients. Levodopa responsiveness was seen in 75% of patients including one with levodopa-induced dyskinesia.

Of 139 patients from 49 studies, levodopa was tried in 123 patients. Improvement with levodopa was seen in 71 patients (57.72%). No improvement with levodopa was observed in 33 patients (26.82%) and details regarding therapeutic response were unavailable in 19 patients (15.44%).

Dystonia is an important clinical manifestation of HT. Levodopa responsiveness seen in the majority of the patients is consistent with the hypothesis that nigrostriatal pathway damage is crucial for the pathophysiology of HT.

Adverse Events of Physiotherapy Interventions in Parkinsonian Patients.

"Movement Disorders Clinical Practice

Physiotherapists have an ethical, professional, and regulatory responsibility for safety in all aspects of patient care. Notwithstanding, the adverse events issue has been inadequately addressed in the rehabilitation research field.

To determine the frequency and characterize the adverse events that occur during or in between physiotherapy sessions for parkinsonian syndromes.

An exploratory clinical study was conducted. Physiotherapists were asked to actively report the adverse events that occurred during or between sessions for parkinsonian syndromes.

A total of 100 patients were enrolled in the study, which resulted in 1845 sessions. The most common adverse events reported were falls, pain/discomfort, and hypotension, with a total of 128 adverse events reported.

During the physiotherapy sessions, adverse events do occur. Future research should clarify the relationship between AE occurrence and the type of intervention as well as causality and risk-minimization strategies.

Deep Brain Stimulation of the Nucleus Basalis of Meynert for Parkinson's Disease Dementia: A 36 Months Follow Up Study.

"Movement Disorders Clinical Practice

Degeneration of the nucleus basalis of Meynert (NBM) and cortical cholinergic dysfunction are hallmarks of Parkinson's disease dementia (PDD). There is no effective therapy for PDD. Deep brain stimulation of the NBM (NBM-DBS) has been trialed as a potential treatment.

Our primary aim was to evaluate the sustained tolerability of NBM-DBS in PDD, and its impact on global cognition, behavioral symptoms, quality of life and caregiver burden and distress. Second, we aimed to determine whether baseline measures of arousal, alertness, and attention were predictive of the three year response to NBM-DBS in PDD patients.

Five of the six PDD patients who completed the baseline assessment participated in a 3 year follow up assessment. We assessed the participants after three years of NBM-DBS on the Mini Mental State Examination, Dementia Rating Scale-2, Blessed Dementia Rating Scale, Neuropsychiatric Inventory, and the SF36.

The five patients showed varying trajectories of cognitive decline, with two showing a slower progression over the three-year follow-up period. A slower progression of decline on global cognition was associated with higher baseline accuracy on the Posner covert orienting of attention test, and less daytime sleepiness.

Whether slower progression of cognitive decline in two patients was in any way related to individual variability in responsiveness to NBM-DBS requires confirmation in a larger series including an unoperated PDD control group. Higher accuracy in covertly orienting attention and better sleep quality at baseline were associated with better cognitive outcomes at 36 months assessment. These results require validation in future studies with larger samples.

Obstructive Sleep Apnea and Other Vascular Risk factors' Impact on Non-Motor Symptoms in Parkinson's Disease.

"Movement Disorders Clinical Practice

Previous studies revealed an association between vascular comorbidities and obstructive sleep apnea (OSA) and the severity of motor and cognitive symptoms in Parkinson's disease (PD). However, there is a lack of studies assessing the entire spectrum of non-motor symptoms (NMS).

To investigate the relationship between vascular comorbidities and NMS in PD patients.

Patients were assessed at baseline and 4 years later with the Non-Motor Symptom Assessment Scale, Parkinson's Psychosis Questionnaire, Unified Parkinson's Disease Rating Scale (UPDRS), Montreal Cognitive Assessment, and Apathy scale. After tetrachoric correlation matrix, we conducted linear regression models (adjusted for age, gender, disease duration, and UPDRS-III) to investigate the relationship between vascular comorbidities and NMS.

In 73 PD patients, (mean disease duration 7.1 [5.3]), 57% had hypertension, 44% body mass index >25, 44% elevated cholesterol, 15% diabetes mellitus, 15% OSA, 14% cigarette-smoking history, 8% prior stroke, and 8% coronary disease. Cognition, psychotic symptoms, apathy, urinary function, and miscellaneous domains significantly worsened at the 4-year follow-up. OSA was significantly associated with higher severity of hallucinations/illusions at baseline and with a more severe deterioration of attention/memory, psychotic symptoms, and apathetic mood at the 4-year follow-up. At baseline, but not at follow-up, hypertension was negatively associated with miscellaneous domain scores and coronary disease with autonomic function scores (gastrointestinal tract and urinary function domains).

Among PD-associated comorbidities, OSA was the main factor of decline. In addition to cognitive impairment, OSA might also potentially worsen psychotic symptoms and apathy. Treatment of OSA could be a strategy to improve these important NMS.

Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series.

"Movement Disorders Clinical Practice

Perry syndrome is a rare autosomal dominant parkinsonian disorder characterized by respiratory failure. The variability in respiratory presentation in this condition is incompletely understood.

We report 2 first-degree relatives with Perry syndrome attributed to the same mutation in the Dynactin 1 (DCTN1) gene. Their clinical presentations with respect to parkinsonism and respiratory failure were heterogeneous. The proband presented with acute respiratory failure requiring invasive ventilation on a background of parkinsonism and remains alive more than 3 years later with a good levodopa response. We contrast this with the published literature, in which acute respiratory presentations were associated with a poor outcome. The proband's brother presented with parkinsonism together with early falls and gait impairment and died following gradual hypoventilation despite noninvasive respiratory support.

Perry syndrome can show intrafamily heterogeneity in both movement disorder and respiratory presentations. Acute respiratory failure is often but not always associated with a poor outcome.

Benefits and Risks of a Staged-Bilateral VIM Versus Unilateral VIM DBS for Essential Tremor.

"Movement Disorders Clinical Practice

Despite over 30 years of clinical experience, high-quality studies on the efficacy of bilateral versus unilateral deep brain stimulation (DBS) of the ventral intermediate (VIM) nucleus of the thalamus for medically refractory essential tremor (ET) remain limited.

To compare benefits and risks of bilateral versus unilateral VIM DBS using the largest ET DBS clinical trial dataset available to date.

Participants from the US St. Jude/Abbott pivotal ET DBS trial who underwent staged-bilateral VIM implantation constituted the primary cohort in this sub-analysis. Their assessments "on" DBS at six months after second-side VIM DBS implantation were compared to the assessments six months after unilateral implantation. Two control cohorts of participants with unilateral implantation only were also used for between-group comparisons.

The primary cohort consisted of n = 38 ET patients (22M/16F; age of 65.3 ± 9.5 years). The second side VIM-DBS resulted in a 29.6% additional improvement in the total motor CRST score (P < 0.001), with a 64.1% CRST improvement in the contralateral side (P < 0.001). An added improvement was observed in the axial tremor score (21.4%, P = 0.005), and CRST part B (24.8%, P < 0.001) score. Rate of adverse events was slightly higher after bilateral stimulation.

In the largest ET DBS study to date, staged-bilateral VIM DBS was a highly effective treatment for ET with bilateral implantation resulting in greater reduction in total motor tremor scores when compared to unilateral stimulation alone.

Therapies, Research Funding, and Racial Diversity in Essential Tremor: A Systematic Review of the Literature.

"Movement Disorders Clinical Practice

Essential tremor (ET) is one of the most common tremor disorders in the world. Despite this, only one medication, propranolol, is approved by the Food and Drug Administration to treat it.

We analyzed controlled clinical trials in ET, spanning the last 50 years, to identify potential shortcomings in the therapeutic clinical pipeline.

Outcomes reviewed included demographics (specifically gender and race), therapeutic modalities, funding information, location of research, and trends over time. Clinical trials published in English were identified in scientific databases (Pubmed, SCOPUS, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov, and the World Health Organization International Clinical Trials Registry Platform from 1970 through December 2021. Included trials were prospective, either single- or double-blinded (including blinded video assessments for surgical trials), with change in limb, head, or voice tremor as the primary outcome measure.

One hundred and eighty-six controlled clinical trials were accepted for extraction, including 4207 patients. Of the 145 trials that included gender, males comprised 59% of the patient population. Only 6.4% of studies provided racial demographics; in these studies, 70.5% of patients were Caucasian. The most common therapeutic modality over the past 50 years was "pharmaceutical" (56%), and the most common pharmaceutical studied was propranolol (32%). 41% of clinical trials reported no specific funding.

Future efforts should focus on increasing funding for clinical trial research in ET worldwide, and trials should be designed to be more inclusive of disadvantaged minorities.

Geste Antagoniste Effects on Motor Performance in Dystonia-A Kinematic Study.

"Movement Disorders Clinical Practice

The kinematic effects of gestes have not previously been studied. The mechanism(s) by which these sensory tricks modify dystonic movement is not well understood.

A kinematic investigation of the geste phenomenon in patients with dystonia.

Twenty-three patients with dystonia associated with a geste were studied. Twenty-nine healthy controls also participated. Fifteen seconds of finger tapping was recorded by electromagnetic sensors, and the task was repeated with geste. Separable motor components were extracted using a custom-written MATLAB script. Performance with and without geste was compared using Wilcoxon signed ranks testing.

Speed and fluency of finger tapping is impaired in dystonia. When patients executed their geste, speed of movement (amplitude × frequency) increased (P < 0.0001), and halts decreased (P = 0.007).

That gestes improve not only dystonic muscle contraction but also the efficiency of voluntary movement suggests a broad influence at the premotor control stage.

Effects of Nabilone on Sleep Outcomes in Patients with Parkinson's Disease: A Post-hoc Analysis of NMS-Nab Study.

"Movement Disorders Clinical Practice

The synthetic tetrahydrocannabinol analogue nabilone improved overall non-motor symptom (NMS) burden in Parkinson's disease (PD) patients in comparison to placebo.

To characterize the effects of nabilone on different sleep outcomes in PD patients.

We performed a post-hoc analysis of the controlled, double-blind, enriched enrollment randomized withdrawal NMS-Nab study to assess the effects of nabilone on sleep outcomes in study participants who reported clinically-relevant sleep problems (MDS-UPDRS-1.7 ≥ 2 points).

After open-label nabilone administration, 77.4% reported no relevant sleep problem. In the withdrawal phase of the trial, the MDS-UPDRS-1.7. and the NMS-Scale Domain 2 (i.e., Sleep/Fatigue) significantly worsened only in PD patients in the placebo group, which was mostly driven by a significant worsening of insomnia (question 5 of the NMS-Scale Domain 2).

This post-hoc analysis of the NMS-Nab trial suggests that nabilone has beneficial effects on sleep outcomes in PD patients experiencing sleep problems at baseline.The original trial was registered with ClinicalTrials.gov (NCT03769896, https://clinicaltrials.gov/ct2/show/NCT03769896) and EudraCT (2017-000192-86).

Quantifying Huntingtin Protein in Human Cerebrospinal Fluid Using a Novel Polyglutamine Length-Independent Assay.

Journal of Huntingtons Disease

The use of biomarkers has become a major component of clinical trial design. In Huntington's disease (HD), quantifying the amount of huntingtin protein (HTT) in patient cerebrospinal fluid (CSF) has served as a pharmacodynamic readout for HTT-lowering therapeutic approaches and is a potential disease progression biomarker. To date, an ultrasensitive immunoassay to quantify mutant HTT protein (mHTT) has been used, but additional assays are needed to measure other forms of HTT protein.

We aimed to develop an ultrasensitive immunoassay to quantify HTT protein in a polyglutamine length-independent manner (mHTT and non-expanded wild type HTT combined) in control and HD participant CSF samples.

An ultrasensitive, bead-based, single molecule counting (SMC) immunoassay platform was used for the detection of HTT protein in human CSF samples.

A novel ultrasensitive SMC immunoassay was developed to quantify HTT protein in a polyglutamine length-independent manner and shown to measure HTT in both control and HD participant CSF samples. We validate the selectivity and specificity of the readout using biochemical and molecular biology tools, and we undertook a preliminary analytical qualification of this assay to enable its clinical use. We also used this novel assay, along with the previously described mHTT assay, to analyze CSF from control and HD participants. The results of this preliminary set suggests that correlation is present between mHTT and the polyglutamine length-independent HTT levels in human CSF.

We have developed a novel ultrasensitive immunoassay that is able to quantify HTT protein in a polyglutamine length-independent manner in control and HD participant CSF.