Journal of Huntington's disease最新文献

{"title":"The Hold me Tight Program for Couples Facing Huntington's Disease.","authors":"Tara M Petzke, M. Rodríguez-Girondo, L. B. van der Meer","doi":"10.3233/jhd-210516","DOIUrl":"https://doi.org/10.3233/jhd-210516","url":null,"abstract":"BACKGROUND A positive predictive genetic test for Huntington's disease (HD) can be a life-changing event for both carriers and their partners, leading to lower wellbeing and increasing the risk for separation and divorce. The 'Hold me Tight' program (HmT), based on emotionally focused couples' therapy, aims at strengthening the couple bond by targeting attachment needs. OBJECTIVE This study investigates whether the HmT program helps couples strengthen their relationship, as an investment in a future where the disease will affect life in many ways. METHODS In a multiple baseline design using three baselines of varying length, 15 couples of presymptomatic HD-carriers and their partners were included. In three consecutive groups, couples underwent the intervention (an adapted version of the 8-session HmT program) in four weekly sessions and completed self-report questionnaires throughout the study period of 19 weeks (17 measurements). Attachment style was assessed at baseline, resilience at baseline and at the end of the follow-up, while relationship satisfaction and wellbeing were measured weekly. A multi-level model was applied to the data. RESULTS Over the course of the study, wellbeing and relationship satisfaction significantly improved; resilience, however, did not. Furthermore, all three outcome measures were moderated by attachment style, with more securely attached individuals showing better outcomes. CONCLUSION HmT improved wellbeing and relationship satisfaction of couples facing HD. Due to these improvements and high patient acceptability rates, this program could become a standardized procedure in HD care. The program could be adapted for other populations, e.g., couples facing other genetic neurological disorders.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2022-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41531112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disease Burden of Huntington’s Disease (HD) on People Living with HD and Care Partners in Canada","authors":"E. Shaw, Michelle Mayer, P. Ekwaru, S. McMullen, E. Graves, Jennifer W. Wu, Nathalie Budd, B. Maturi, T. Cowling, T. Mestre","doi":"10.3233/jhd-210505","DOIUrl":"https://doi.org/10.3233/jhd-210505","url":null,"abstract":"Background: Huntington’s disease (HD) has been shown to reduce health-related quality of life (HRQoL) and affect healthcare resource utilization (HRU) among patients and care partners internationally but has not been studied specifically in the Canadian context. Objective: To characterize the burden of HD on individuals with HD and care partners of individuals with HD in Canada. Methods: An online survey was distributed (September 14–November 23, 2020) through patient organizations to collect data on demographic and clinical characteristics, as well as: HRQoL, measured using the 36-Item Short-Form Health Survey (SF-36v1); HRU, measured using the Client Service Receipt Inventory (CSRI); and care partner burden, measured using the Caregiver Strain Index (CSI) and Huntington’s Disease Quality of Life Battery for Carers (HDQoL-C). Descriptive statistics were used to report data and compare subgroups. Results: A total of 62 adult individuals with HD (or their proxies) and 48 care partners met defined eligibility criteria. The mean [standard deviation] age was 51.2 [13.8] and 58.1 [13.9] years for individuals with HD and care partner respondents, respectively. For individuals with HD, the greatest HRQoL burden (i.e., lowest score) was for the SF-36v1 Role –Physical scale (46.8 [42.9]). HRU was higher for some services (e.g., general practitioner visits) for respondents who had experienced motor onset transition. Among care partners, 55.3% experienced high strain, as indicated by the CSI. The HDQoL-C showed the greatest HRQoL burden in feelings about life (45.1 [17.9]). Conclusion: This study quantified the substantial burden on individuals with HD and care partners in Canada, addressing a critical knowledge gap that can affect the availability of and access to healthcare services.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 1","pages":"179 - 193"},"PeriodicalIF":3.1,"publicationDate":"2022-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46949539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Geographic Barriers Drive Disparities in Specialty Center Access for Older Adults with Huntington's Disease.","authors":"Thanh Phuong Pham Nguyen, Licia Bravo, P. Gonzalez-Alegre, A. Willis","doi":"10.3233/jhd-210489","DOIUrl":"https://doi.org/10.3233/jhd-210489","url":null,"abstract":"BACKGROUND\u0000Huntington's Disease Society of America Centers of Excellence (HDSA COEs) are primary hubs for Huntington's disease (HD) research opportunities and accessing new treatments. Data on the extent to which HDSA COEs are accessible to individuals with HD, particularly those older or disabled, are lacking.\u0000\u0000\u0000OBJECTIVE\u0000To describe persons with HD in the U.S. Medicare program and characterize this population by proximity to an HDSA COE.\u0000\u0000\u0000METHODS\u0000We conducted a cross-sectional study of Medicare beneficiaries ages ≥65 with HD in 2017. We analyzed data on benefit entitlement, demographics, and comorbidities. QGis software and Google Maps Interface were employed to estimate the distance from each patient to the nearest HDSA COE, and the proportion of individuals residing within 100 miles of these COEs at the state level.\u0000\u0000\u0000RESULTS\u0000Among 9,056 Medicare beneficiaries with HD, 54.5% were female, 83.0% were white; 48.5% were ≥65 years, but 64.9% originally qualified for Medicare due to disability. Common comorbidities were dementia (32.4%) and depression (35.9%), and these were more common in HD vs. non-HD patients. Overall, 5,144 (57.1%) lived within 100 miles of a COE. Race/ethnicity, sex, age, and poverty markers were not associated with below-average proximity to HDSA COEs. The proportion of patients living within 100 miles of a center varied from < 10% (16 states) to > 90% (7 states). Most underserved states were in the Mountain and West Central divisions.\u0000\u0000\u0000CONCLUSION\u0000Older Medicare beneficiaries with HD are frequently disabled and have a distinct comorbidity profile. Geographical, rather than sociodemographic factors, define the HD population with limited access to HDSA COEs.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"35 12","pages":"81-89"},"PeriodicalIF":3.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41302081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A message from the Editors-in-Chief on the 10th Anniversary of the Journal of Huntington's Disease.","authors":"B. Leavitt, L. Thompson","doi":"10.3233/jhd-229001","DOIUrl":"https://doi.org/10.3233/jhd-229001","url":null,"abstract":"","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 1 1","pages":"1-2"},"PeriodicalIF":3.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45059071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lesley Jones: In Memoriam.","authors":"Anne Rosser,&nbsp;Sarah Tabrizi","doi":"10.3233/JHD-229007","DOIUrl":"https://doi.org/10.3233/JHD-229007","url":null,"abstract":"","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 4","pages":"349-350"},"PeriodicalIF":3.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10383537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Huntingtin Overexpression Does Not Alter Overall Survival in Murine Cancer Models.","authors":"Laura Lynn Chan,&nbsp;Austin Hill,&nbsp;Ge Lu,&nbsp;Jeremy Van Raamsdonk,&nbsp;Randy Gascoyne,&nbsp;Michael R Hayden,&nbsp;Blair R Leavitt","doi":"10.3233/JHD-220554","DOIUrl":"https://doi.org/10.3233/JHD-220554","url":null,"abstract":"<p><p>A reduced incidence of various forms of cancer has been reported in Huntington's disease patients and may be due to pro-apoptotic effects of mutant huntingtin. We tested this hypothesis by assessing the effects of huntingtin protein overexpression on survival in two murine cancer models. We generated YAC HD mice containing human huntingtin transgenes with various CAG tract lengths (YAC18, YAC72, YAC128) on either an Msh2 or p53 null background which have increased cancer incidence. In both mouse models of cancer, the overexpression of either mutant or wild-type huntingtin had no significant effect on overall survival. These results do not support the hypothesis that mutant huntingtin expression is protective against cancer.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 4","pages":"383-389"},"PeriodicalIF":3.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10452272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Double-Pronged Sword: XJB-5-131 Is a Suppressor of Somatic Instability and Toxicity in Huntington's Disease.","authors":"Pater Wipf, Aris A Polyzos, Cynthia T McMurray","doi":"10.3233/JHD-210510","DOIUrl":"10.3233/JHD-210510","url":null,"abstract":"<p><p>Due to large increases in the elderly populations across the world, age-related diseases are expected to expand dramatically in the coming years. Among these, neurodegenerative diseases will be among the most devastating in terms of their emotional and economic impact on patients, their families, and associated subsidized health costs. There is no currently available cure or rescue for dying brain cells. Viable therapeutics for any of these disorders would be a breakthrough and provide relief for the large number of affected patients and their families. Neurodegeneration is accompanied by elevated oxidative damage and inflammation. While natural antioxidants have largely failed in clinical trials, preclinical phenotyping of the unnatural, mitochondrial targeted nitroxide, XJB-5-131, bodes well for further translational development in advanced animal models or in humans. Here we consider the usefulness of synthetic antioxidants for the treatment of Huntington's disease. The mitochondrial targeting properties of XJB-5-131 have great promise. It is both an electron scavenger and an antioxidant, reducing both somatic expansion and toxicity simultaneously through the same redox mechanism. By quenching reactive oxygen species, XJB-5-131 breaks the cycle between the rise in oxidative damage during disease progression and the somatic growth of the CAG repeat which depends on oxidation.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 1","pages":"3-15"},"PeriodicalIF":2.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/42/jhd-11-jhd210510.PMC9028625.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9693208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain Alterations in Aged OVT73 Sheep Model of Huntington's Disease: An MRI Based Approach.","authors":"Toloo Taghian,&nbsp;Jillian Gallagher,&nbsp;Erin Batcho,&nbsp;Caitlin Pullan,&nbsp;Tim Kuchel,&nbsp;Thomas Denney,&nbsp;Raj Perumal,&nbsp;Shamika Moore,&nbsp;Robb Muirhead,&nbsp;Paul Herde,&nbsp;Daniel Johns,&nbsp;Chris Christou,&nbsp;Amanda Taylor,&nbsp;Thomas Passler,&nbsp;Sanjana Pulaparthi,&nbsp;Erin Hall,&nbsp;Sundeep Chandra,&nbsp;Charles A O'Neill,&nbsp;Heather Gray-Edwards","doi":"10.3233/JHD-220526","DOIUrl":"https://doi.org/10.3233/JHD-220526","url":null,"abstract":"<p><strong>Background: </strong>Huntington's disease (HD) is a fatal neurodegenerative autosomal dominant disorder with prevalence of 1 : 20000 that has no effective treatment to date. Translatability of candidate therapeutics could be enhanced by additional testing in large animal models because of similarities in brain anatomy, size, and immunophysiology. These features enable realistic pre-clinical studies of biodistribution, efficacy, and toxicity.</p><p><strong>Objective and methods: </strong>Here we non-invasively characterized alterations in brain white matter microstructure, neurochemistry, neurological status, and mutant Huntingtin protein (mHTT) levels in cerebrospinal fluid (CSF) of aged OVT73 HD sheep.</p><p><strong>Results: </strong>Similar to HD patients, CSF mHTT differentiates HD from normal sheep. Our results are indicative of a decline in neurological status, and alterations in brain white matter diffusion and spectroscopy metric that are more severe in aged female HD sheep. Longitudinal analysis of aged female HD sheep suggests that the decline is detectable over the course of a year. In line with reports of HD human studies, white matter alterations in corpus callosum correlates with a decline in gait of HD sheep. Moreover, alterations in the occipital cortex white matter correlates with a decline in clinical rating score. In addition, the marker of energy metabolism in striatum of aged HD sheep, shows a correlation with decline of clinical rating score and eye coordination.</p><p><strong>Conclusion: </strong>This data suggests that OVT73 HD sheep can serve as a pre-manifest large animal model of HD providing a platform for pre-clinical testing of HD therapeutics and non-invasive tracking of the efficacy of the therapy.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 4","pages":"391-406"},"PeriodicalIF":3.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/62/c3/jhd-11-jhd220526.PMC9837686.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10690350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Supporting Trial Participation in People with the Huntington's Gene: A Patient-Centered, Theory-Guided Survey of Barriers and Enablers.","authors":"Kelly Carroll,&nbsp;Natasha Hudek,&nbsp;Angèle Bénard,&nbsp;Justin Presseau,&nbsp;Dawn P Richards,&nbsp;Marlin Susan,&nbsp;Dean A Fergusson,&nbsp;Ian D Graham,&nbsp;Tiago A Mestre,&nbsp;Jamie C Brehaut","doi":"10.3233/JHD-220541","DOIUrl":"https://doi.org/10.3233/JHD-220541","url":null,"abstract":"<p><strong>Background: </strong>Under-recruitment regularly impedes clinical trials, leading to wasted resources and opportunity costs. Methods for designing trial participation strategies rarely consider behavior change theory.</p><p><strong>Objective: </strong>Informed by the Theoretical Domains Framework, we identified factors important to participating in Huntington's disease research and provide examples of how such a theory-informed approach can make specific suggestions about how to design targeted recruitment strategies.</p><p><strong>Methods: </strong>We identified a range of trial participation barriers and enablers based on interviews of key informants and implemented an online survey of members of the Huntington's disease community, asking them to rate the extent to which different factors would affect likelihood to participate in a generic Huntington's disease trial.</p><p><strong>Results: </strong>From 4,195 members, we received 323 responses and 243 completed surveys (323/4,195 or 8% participation, 243/323 or 75% completion). Respondents endorsed 9 barriers and 23 enablers relevant to trial participation. Most frequently endorsed barriers were travel to the study site (69%), worry about unknown side effects (65%), trial documents being difficult to understand (64%), and participation affecting other activities (49%). Enablers included optimism about likelihood of trial participation leading to a cure (98%), helping others (98%), contributing to science (97%), and having helpful people available to help with the participation decision (89%).</p><p><strong>Conclusion: </strong>Our theory-informed survey to identify barriers to and enablers of Huntington's disease trial participation identified 32 factors, from 13 theoretical domains relevant to trial participation, and suggests effective approaches for improving trial participation and patient experience.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 4","pages":"421-434"},"PeriodicalIF":3.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10451263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient and Caregiver Perspectives on Telehealth Use in a Multidisciplinary Huntington's Disease Clinic: A Single-Institution Experience.","authors":"Diksha Mohanty,&nbsp;Philipp Schmitt,&nbsp;Laura Dixon,&nbsp;Victoria Holiday,&nbsp;Peter Hedera","doi":"10.3233/JHD-220547","DOIUrl":"https://doi.org/10.3233/JHD-220547","url":null,"abstract":"<p><strong>Background: </strong>The coronavirus pandemic saw technology evolve as outpatient clinics faced restriction of in-person visits. Reliance on telemedicine using two-way audio-video communication significantly increased. Telemedicine was observed to be convenient, cost-effective, reduced no-show rates, and fostered sustained engagement. Enhanced flexibility from short notice scheduling benefitted patients and their caregivers. Greater time value was perceived by patients, and reduced reliance on caregivers. Disadvantages included barriers of access to internet connectivity or equipment.</p><p><strong>Objective: </strong>We aimed to retrospectively survey patients with Huntington's disease (HD) seen via telehealth in our HDSA Center for Excellence Multidisciplinary clinic. We evaluated usability, learnability, interface quality, reliability, and future use.</p><p><strong>Methods: </strong>This qualitative survey used the 21-item Telehealth Usability Questionnaire. Close-ended responses ranged from strongly disagree to strongly agree scored on Likert scale (1 through 7). Averages were calculated to examine attitudes towards telemedicine. Spearman correlation test was performed to detect attitude biases between patients and caregivers.</p><p><strong>Results: </strong>Respondents were more likely than not to strongly agree with survey statements. Average attitude score of 5.92 (range 2.95-7.00) suggested favorability and improved convenience when telehealth was used in complement to in-person visits, without detriment to patient-provider communication. Spearman correlation coefficient between patient and family/caregiver groups was 0.023, which is below the cutoff of 0.344 for a = 0.05 at N = 24. This suggests there was no bias between patient and caregiver attitudes.</p><p><strong>Conclusion: </strong>This study demonstrated telehealth is favored by caregivers and patients with HD. This population with specific physical, cognitive and psychiatric needs can benefit from adaptive systems that enhance compliance.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"11 4","pages":"415-419"},"PeriodicalIF":3.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10798011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}