scholarly journals Impact of Caryolanemagnolol on Gait and Functional Mobility on Individuals with Huntington’s Disease

2015 ◽  
Vol 14 (9) ◽  
pp. 1713-1717
Author(s):  
Ran Du
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Negative Impact ◽  
Dynamic Balance ◽  
Functional Mobility ◽  
Stand Test ◽  
Mobility Test ◽  
Sit To Stand ◽  
The Impact

Purpose: To highlight the impact of caryolanemagnolol on gait measures in forward walking, balance and mobility measures, as well as in hand and forearm function measures.Methods: Twenty patients with Huntington’s disease (HD) on stable doses of caryolanemagnolol were evaluated after medication and again following resumption of medication. The improvement in spatiotemporal gait parameters was measured by GAITRite, balance and/or mobility using Tinetti mobility test (TMT), five times sit-to-stand test (5TSST), and six-condition Romberg tests, as well as the function of the hand and forearm by finger tapping and Luria tests on Huntington's disease rating scale (UHDRS) motor scale.Results: The results demonstrated significant improvement in the unified UHDRS motor scores, Tinetti mobility test (TMT) total and balance subscale scores, and the five times sit-to-stand test when oncaryolanemagnolol compared to off-caryolanemagnolol. Spatiotemporal gait measures, the six condition Romberg test, and UHDRS hand and forearm function items remained unaffected on caryolanemagnolol treatment. Improved TMT and 5TSST performance when on drug indicates that caryolanemagnolol use may improve balance and functional mobility in individuals with HD.Conclusions: Caryolanemagnolol improves chorea and functional mobility by improving dynamic balance in individuals without any negative impact on motor function in walking and transfers.Keywords: Huntington's disease, Caryolanemagnolol, Gait measures, Choreic movements, Mobility tests

The Impact of Anosognosia on Clinical and Patient-Reported Assessments of Psychiatric Symptoms in Huntington’s Disease

2020 ◽  
Vol 9 (3) ◽  
pp. 291-302
Author(s):  
David Isaacs ◽  
Jessie S. Gibson ◽  
Jeffrey Stovall ◽  
Daniel O. Claassen
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Discriminant Validity ◽  
Rating Scales ◽  
Rating Scale ◽  
Psychiatric Symptoms ◽  
Self Report ◽  
Depression And Anxiety ◽  
Patient Reported ◽  
The Impact

Background: Psychiatric symptoms are widely prevalent in Huntington’s disease (HD) and exert greater impact on quality of life than motor manifestations. Despite this, psychiatric symptoms are frequently underrecognized and undertreated. Lack of awareness, or anosognosia, has been observed at all stages of HD and may contribute to diminished patient self-reporting of psychiatric symptoms. Objective: We sought to evaluate the impact of anosognosia on performance of commonly used clinical rating scales for psychiatric manifestations of HD. Methods: We recruited 50 HD patients to undergo a formal psychiatrist evaluation, the Problem Behavior Assessment-Short Form (PBA-s), and validated self-report rating scales for depression, anxiety, and anger. Motor impairment, cognitive function, and total functional capacity were assessed as part of clinical exam. Patient awareness of motor, cognitive, emotional, and functional capacities was quantified using the Anosognosia Rating Scale. Convergent validity, discriminant validity, classification accuracy, and anosognosia effect was determined for each psychiatric symptom rating scale. Results: Anosognosia was identified in one-third of patients, and these patients underrated the severity of depression and anxiety when completing self-report instruments. Anosognosia did not clearly influence self-reported anger, but this result may have been confounded by the sub-optimal discriminant validity of anger rating scales. Conclusion: Anosognosia undermines reliability of self-reported depression and anxiety in HD. Self-report rating scales for depression and anxiety may have a role in screening, but results must be corroborated by provider and caregiver input when anosognosia is present. HD clinical trials utilizing patient-reported outcomes as study endpoints should routinely evaluate participants for anosognosia.

scholarly journals Impact of Chorea on Self-care Activity, Employment, and Health-care Resource Use in Patients with Huntington’s Disease

2021 ◽  
Vol 8 (1) ◽  
pp. 99-105
Author(s):  
Jonathan DeCourcy ◽  
Jennifer Mellor ◽  
Charlotte Johnston ◽  
Ravi G Iyer ◽  
Daniel O Claassen
Keyword(s):  
Health Care ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Employment Status ◽  
Negative Impact ◽  
Self Care ◽  
The United States ◽  
Health Care Resource ◽  
Full Time ◽  
The Impact

Background: Chorea is recognized as a prototypic motor feature of Huntington’s disease (HD), but its effect on health-related quality of life (HRQoL) has not been fully explored. This study describes the impact of chorea on HRQoL in patients with HD. Objective: To determine the impact of HD-related chorea on employment, self-care activities, activities of daily living, and health-care resource utilization (HCRU). Methods: Data were drawn from the Adelphi HD Disease Specific Programme, a real-world point-in-time survey of 144 neurologists and 427 patients in the United States between July and October 2017. HD patients with and without chorea were identified and examined for differences in employment status, reasons for employment changes, self-care activities, and modifications to cope with involuntary movements. Bivariate tests and inverse probability weighted regression adjustment methods were used to determine differences in outcomes between patients with and without chorea. Results: HD patients with (n=287) and without (n=140) chorea were identified. Patients with chorea were less likely to be employed full-time (16.7% vs 25.7%; P<0.04) and more likely to be on long-term sick leave (17.4% vs 5.0%; P<0.01). The onset of motor symptoms in HD-related chorea patients coincided with a change in employment status (42.7% vs 20.8%; P<0.01). Among those still working (n=145), more than two-fifths of patients with chorea required changes to their workplace and required these changes more frequently (45% vs 17%; P<0.001). HD patients with chorea required aid to help them get around significantly more frequently than those without chorea (55% vs 34%; P<0.001). Discussion: These results demonstrate that HD patients with chorea experienced greater negative impact to employment, self-care activities, and HCRU than patients without chorea experienced. These patients were more likely to stop working due to motor, cognitive, and behavioral symptoms; require modifications in the home and workplace; and need more assistance from caregivers than patients without chorea. Conclusions: Patients with HD-related chorea have greater detriments to emotional, interpersonal, and professional functioning that could be improved by reducing chorea.

scholarly journals Neuropsychiatric, cognitive and sexual impairment in mastocytosis patients

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Fatma Jendoubi ◽  
Maella Severino-Freire ◽  
Mathilde Negretto ◽  
Christophe Arbus ◽  
Carle Paul ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Rating Scale ◽  
Negative Impact ◽  
Diagnostic Delay ◽  
Professional Lives ◽  
Cutaneous Lesions ◽  
Kit Mutation ◽  
Sexual Symptoms ◽  
Organ Systems ◽  
The Impact

Abstract Background Mastocytosis is a rare disease characterised by the accumulation and/or proliferation of abnormal mast cells (MCs) in one or several organs. It may present with a number of different symptoms that involve various organ systems. The current study aims to assess the prevalence of MC mediator-related symptoms in a cohort of mastocytosis patients with a specific focus on neurological, psychiatric, cognitive and sexual symptoms. We also assessed the impact of the disease on patients’ professional lives. Patients were administered a validated multidimensional questionnaire to collect information on patients’ perception of the severity of their symptoms. From the questionnaires we extracted the neurological, cognitive, psychiatric and sexual symptoms and the impact of the disease on patients’ professional lives as well as their grading. The affective status was assessed using the 17-item version of the Hamilton Depression Rating Scale. Results We included 139 patients. Mastocytosis was classified as systemic in 113 patients and cutaneous in 26 patients. The prevalence of MC mediator-related systemic symptoms was as follows: cutaneous (71%), gastro-intestinal (48%), cardio-vascular (36%), musculoskeletal (26.6%), fatigue (24%), urinary (14.4%) and respiratory (10%). Headaches and vertigo were noted in respectively 55% and 32% of patients. Irritability, episodes of memory loss and difficulty concentrating were reported in 54%, 52% and 40% of cases, respectively. Sexual impairment was noted in 24% of patients. No associations were found between neuropsychiatric/cognitive impairment and age, gender, diagnostic delay, disease form, the presence of cutaneous lesions, the level of serum and bone marrow tryptase and the presence of KIT mutation in bone marrow and/or skin. Depression was noted in 49% of patients. One in four patients reported a negative impact of the disease on their professional lives. Conclusion This current study provides some insights regarding symptoms related to mastocytosis and their impact on patients’ professional lives.

scholarly journals Long-Term Efficacy and Safety of Deutetrabenazine for Chorea in Huntington’s Disease: Results From the ARC-HD Open-label Study

CNS Spectrums ◽  
2021 ◽  
Vol 26 (2) ◽  
pp. 164-165
Author(s):  
Samuel Frank ◽  
Claudia M. Testa ◽  
David Stamler ◽  
Elise Kayson ◽  
David Oakes ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Study Drug ◽  
Motor Dysfunction ◽  
Open Label ◽  
Entire Treatment Period ◽  
End Of Treatment ◽  
Pharmaceutical Industries

AbstractBackgroundChorea is a prominent motor dysfunction in Huntington’s disease (HD). Deutetrabenazine, a vesicular monoamine transporter 2 (VMAT2) inhibitor, is FDA-approved for the treatment of chorea in HD. In the pivotal, 12-week First-HD trial, deutetrabenazine treatment reduced the Unified Huntington’s Disease Rating Scale (UHDRS) total maximal chorea (TMC) score versus placebo. ARC-HD, an open-label extension study, evaluated long-term safety and efficacy of deutetrabenazine dosed in a response-driven manner for treatment of HD chorea.MethodsPatients who completed First-HD (Rollover) and patients who converted overnight from a stable dose of tetrabenazine (Switch) were included. Safety was assessed over the entire treatment period; exposure-adjusted incidence rates (EAIRs; adverse events [AEs] per person-year) were calculated. A stable, post-titration time point of 8 weeks was chosen for efficacy analyses.ResultsOf 119 patients enrolled (Rollover, n=82; Switch, n=37), 100 (84%) completed ≥1 year of treatment (mean [SD] follow-up, 119 [48] weeks). End of study EAIRs for patients in the Rollover and Switch cohorts, respectively, were: any AE, 2.6 and 4.3; serious AEs, 0.13 and 0.14; AEs leading to dose suspension, 0.05 and 0.04. Overall, 68% and 73% of patients in Rollover and Switch, respectively, experienced a study drug–related AE. Most common AEs possibly related to study drug were somnolence (17% Rollover; 27% Switch), depression (23%; 19%), anxiety (9%; 11%), insomnia (10%; 8%), and akathisia (9%; 14%). Rates of AEs of interest include suicidality (9%; 3%) and parkinsonism (6%; 11%). In both cohorts, mean UHDRS TMC score and total motor score (TMS) decreased from baseline to Week 8; mean (SD) change in TMC score (units) was –4.4 (3.1) and –2.1 (3.3) and change in TMS was –7.1 (7.3) and –2.4 (8.7) in Rollover and Switch, respectively. While receiving stable dosing from Week 8 to 132 (or end of treatment), patients showed minimal change in TMC score (0.9 [5.0]), but TMS increased compared to Week 8 (9.0 [11.3]). Upon drug withdrawal, there were no remarkable AEs and TMC scores increased 4.4 (3.7) units compared to end of treatment.ConclusionsThe type and severity of AEs observed in long-term deutetrabenazine exposure are consistent with the previous study. Efficacy in reducing chorea persisted over time. There was no unexpected worsening of HD or chorea associated with HD upon deutetrabenazine withdrawal.FundingTeva Pharmaceutical Industries Ltd., Petach Tikva, Israel

Abnormal Spinal Cord Myelination due to Oligodendrocyte Dysfunction in a Model of Huntington’s Disease

2021 ◽  
pp. 1-8
Author(s):  
Costanza Ferrari Bardile ◽  
Harwin Sidik ◽  
Reynard Quek ◽  
Nur Amirah Binte Mohammad Yusof ◽  
Marta Garcia-Miralles ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Oligodendrocyte Progenitor Cells ◽  
Wild Type ◽  
Specific Expression ◽  
Relative Contribution ◽  
Related Proteins ◽  
The Impact ◽  
Cervical Area

Background: The relative contribution of grey matter (GM) and white matter (WM) degeneration to the progressive brain atrophy in Huntington’s disease (HD) has been well studied. The pathology of the spinal cord in HD is comparatively less well documented. Objective: We aim to characterize spinal cord WM abnormalities in a mouse model of HD and evaluate whether selective removal of mutant huntingtin (mHTT) from oligodendroglia rescues these deficits. Methods: Histological assessments were used to determine the area of GM and WM in the spinal cord of 12-month-old BACHD mice, while electron microscopy was used to analyze myelin fibers in the cervical area of the spinal cord. To investigate the impact of inactivation of mHTT in oligodendroglia on these measures, we used the previously described BACHDxNG2Cre mouse line where mHTT is specifically reduced in oligodendrocyte progenitor cells. Results: We show that spinal GM and WM areas are significantly atrophied in HD mice compared to wild-type controls. We further demonstrate that specific reduction of mHTT in oligodendroglial cells rescues the atrophy of spinal cord WM, but not GM, observed in HD mice. Inactivation of mHTT in oligodendroglia had no effect on the density of oligodendroglial cells but enhanced the expression of myelin-related proteins in the spinal cord. Conclusion: Our findings demonstrate that the myelination abnormalities observed in brain WM structures in HD extend to the spinal cord and suggest that specific expression of mHTT in oligodendrocytes contributes to such abnormalities.

scholarly journals Characterising Upper Limb Movements in Huntington's Disease and the Impact of Restricted Visual Cues

PLoS ONE ◽  
2015 ◽  
Vol 10 (8) ◽  
pp. e0133709 ◽  
Author(s):  
Jessica Despard ◽  
Anne-Marie Ternes ◽  
Bleydy Dimech-Betancourt ◽  
Govinda Poudel ◽  
Andrew Churchyard ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Upper Limb ◽  
Visual Cues ◽  
Limb Movements ◽  
Upper Limb Movements ◽  
The Impact

scholarly journals Objectively characterizing Huntington’s disease using a novel upper limb dexterity test

2021 ◽  
Author(s):  
Samuel Woodgate ◽  
Philippa Morgan-Jones ◽  
Susanne Clinch ◽  
Cheney Drew ◽  
Rebecca Playle ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Severity ◽  
Convergent Validity ◽  
Rating Scale ◽  
Objective Assessment ◽  
Prognostic Index ◽  
Transfer Task ◽  
Clinical Expertise ◽  
Clinical Scores

Abstract Background The Clinch Token Transfer Test (C3t) is a bi-manual coin transfer task that incorporates cognitive tasks to add complexity. This study explored the concurrent and convergent validity of the C3t as a simple, objective assessment of impairment that is reflective of disease severity in Huntington’s, that is not reliant on clinical expertise for administration. Methods One-hundred-and-five participants presenting with pre-manifest (n = 16) or manifest (TFC-Stage-1 n = 39; TFC-Stage-2 n = 43; TFC-Stage-3 n = 7) Huntington’s disease completed the Unified Huntington’s Disease Rating Scale and the C3t at baseline. Of these, thirty-three were followed up after 12 months. Regression was used to estimate baseline individual and composite clinical scores (including cognitive, motor, and functional ability) using baseline C3t scores. Correlations between C3t and clinical scores were assessed using Spearman’s R and visually inspected in relation to disease severity using scatterplots. Effect size over 12 months provided an indication of longitudinal behaviour of the C3t in relation to clinical measures. Results Baseline C3t scores predicted baseline clinical scores to within 9–13% accuracy, being associated with individual and composite clinical scores. Changes in C3t scores over 12 months were small ($$\Omega$$ Ω ≤ 0.15) and mirrored the change in clinical scores. Conclusion The C3t demonstrates promise as a simple, easy to administer, objective outcome measure capable of predicting impairment that is reflective of Huntington’s disease severity and offers a viable solution to support remote clinical monitoring. It may also offer utility as a screening tool for recruitment to clinical trials given preliminary indications of association with the prognostic index normed for Huntington’s disease.

scholarly journals The impact of the gut microbiota on Huntington's disease mice

IBRO Reports ◽  
2019 ◽  
Vol 6 ◽  
pp. S370-S371
Author(s):  
Carolina De Moura Gubert ◽  
Geraldine Kong ◽  
Jamie Liew ◽  
Chloe Love ◽  
Thibault Renoir ◽  
...  
Keyword(s):  
Gut Microbiota ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
The Impact
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