Journal of Huntington's disease最新文献_第6页

Huntington's Disease-Related Mortality Patterns: A Two-Decade Analysis of Mortality Trends in the United States, from 1999-2019. 亨廷顿氏病相关死亡率模式：1999-2019年美国死亡率趋势二十年分析》。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240037

Muhammad Arham Bin Kashif, Samar Mahmood, Tahrim Saqib, Syeda Tahira Waheed, Piresh Kumar, Aima Javaid, Muhammad Asjad Riaz, Urooj Fatima, Zain Ali Nadeem, Shahbaz Ali Nasir, Afrah Hassan

{"title":"Huntington's Disease-Related Mortality Patterns: A Two-Decade Analysis of Mortality Trends in the United States, from 1999-2019.","authors":"Muhammad Arham Bin Kashif, Samar Mahmood, Tahrim Saqib, Syeda Tahira Waheed, Piresh Kumar, Aima Javaid, Muhammad Asjad Riaz, Urooj Fatima, Zain Ali Nadeem, Shahbaz Ali Nasir, Afrah Hassan","doi":"10.3233/JHD-240037","DOIUrl":"10.3233/JHD-240037","url":null,"abstract":"Background: Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder debilitating mainly in adults.Objective: This study aimed to assess the trends in HD-related mortality regarding various demographic factors.Methods: Death certificates from the CDC WONDER were studied from 1999 to 2019, for HD-related mortality in adults aged 25 + years. Age-adjusted Mortality Rate (AAMR) per 100,000 persons and Annual Percentage Change (APC) were calculated and stratified by year, age groups, gender, race/ethnicity, state, census region, urbanization, and place of death.Results: Between 1999 to 2019, 22,595 deaths occurred in adults due to HD. The AAMR increased from 0.43 to 0.54 during this period (APC = 0.50; 95% CI: 0.18 to 0.84). Old adults (65-85 + years) had the highest overall AAMR, followed by middle-aged adults (45-64 years) and young adults (25-44 years) (AAMR old: 1.01 vs. AAMR middle-age: 0.68 vs. AAMR young: 0.16). Men had slightly greater overall AAMRs than women (AAMR men: 0.54 vs. AAMR women: 0.48). When stratified by race, non-Hispanic (NH) Whites had significantly higher mortality rates than NH African Americans (AAMR NH White: 0.61 vs. NH African American: 0.35), while the AAMR were lowest in Hispanic/Latino (0.28). The AAMRs also showed variation by region (overall AAMR: Midwest: 0.63, Northeast: 0.47, West: 0.48, South: 0.46), and non-metropolitan areas had higher HD-related AAMR (0.66) than metropolitan areas (0.47).Conclusions: HD-related mortality in US adults has increased since 1999. Reflecting on the variations in trends observed, new strategies are required to optimize the quality of care in long-term care facilities.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"329-338"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108103","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}

引用次数: 0

Magnetic Resonance Imaging to Detect Structural Brain Changes in Huntington's Disease: A Review of Data from Mouse Models. 磁共振成像检测亨廷顿氏病的脑结构变化：小鼠模型数据回顾。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240045

Jenna Hanrahan, Drew P Locke, Lindsay S Cahill

引用次数: 0

Huntington's Disease Clinical Trials Corner: March 2024. 亨廷顿舞蹈症临床试验最新进展：2024年2月

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240017

Carlos Estevez-Fraga, Sarah J Tabrizi, Edward J Wild

引用次数: 0

Theory of Mind in Huntington's Disease: A Systematic Review of 20 Years of Research. 亨廷顿舞蹈症的思维理论：20 年研究的系统回顾》。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-230594

Johana Escudero-Cabarcas, Wilmar Pineda-Alhucema, Martha Martinez-Banfi, Johan E Acosta-López, Martha L Cervantes-Henriquez, Elsy Mejía-Segura, Giomar Jiménez-Figueroa, Cristian Sánchez-Barros, Pedro J Puentes-Rozo, Luz M Noguera-Machacón, Mostapha Ahmad, Moisés de la Hoz, Jorge I Vélez, Mauricio Arcos-Burgos, David A Pineda, Manuel Sánchez

{"title":"Theory of Mind in Huntington's Disease: A Systematic Review of 20 Years of Research.","authors":"Johana Escudero-Cabarcas, Wilmar Pineda-Alhucema, Martha Martinez-Banfi, Johan E Acosta-López, Martha L Cervantes-Henriquez, Elsy Mejía-Segura, Giomar Jiménez-Figueroa, Cristian Sánchez-Barros, Pedro J Puentes-Rozo, Luz M Noguera-Machacón, Mostapha Ahmad, Moisés de la Hoz, Jorge I Vélez, Mauricio Arcos-Burgos, David A Pineda, Manuel Sánchez","doi":"10.3233/JHD-230594","DOIUrl":"10.3233/JHD-230594","url":null,"abstract":"Background: People with Huntington's disease (HD) exhibit neurocognitive alterations throughout the disease, including deficits in social cognitive processes such as Theory of Mind (ToM).Objective: The aim is to identify methodologies and ToM instruments employed in HD, alongside relevant findings, within the scientific literature of the past two decades.Methods: We conducted a comprehensive search for relevant papers in the SCOPUS, PubMed, APA-PsyArticles, Web of Science, Redalyc, and SciELO databases. In the selection process, we specifically focused on studies that included individuals with a confirmed genetic status of HD and investigated ToM functioning in patients with and without motor symptoms. The systematic review followed the PRISMA protocol.Results: A total of 27 papers were selected for this systematic review, covering the period from 2003 to 2023. The findings consistently indicate that ToM is globally affected in patients with manifest motor symptoms. In individuals without motor symptoms, impairments are focused on the affective dimensions of ToM.Conclusions: Based on our analysis, affective ToM could be considered a potential biomarker for HD. Therefore, it is recommended that ToM assessment be included as part of neuropsychological evaluation protocols in clinical settings. Suchinclusion could aid in the identification of early stages of the disease and provide new opportunities for treatment, particularly with emerging drugs like antisense oligomers. The Prospero registration number for this review is CRD42020209769.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"15-31"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140189701","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}

引用次数: 0

Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease. 亨廷顿氏症转基因绵羊模型中体细胞 CAG 重复序列的稳定性。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231516

Renee R Handley, Suzanne J Reid, Zoe Burch, Jessie C Jacobsen, Tammy Gillis, Kevin Correia, Skye R Rudiger, Clive J McLaughlin, C Simon Bawden, Marcy E MacDonald, Vanessa C Wheeler, Russell G Snell

引用次数: 0

Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study. 青少年和儿童亨廷顿氏病的发病率及其参与试验的可能性和能力：荷兰人口与Enroll-HD观察研究》。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240034

Hannah S Bakels, Stephanie Feleus, Mar Rodríguez-Girondo, Monique Losekoot, Emilia K Bijlsma, Raymund A C Roos, Susanne T de Bot

{"title":"Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study.","authors":"Hannah S Bakels, Stephanie Feleus, Mar Rodríguez-Girondo, Monique Losekoot, Emilia K Bijlsma, Raymund A C Roos, Susanne T de Bot","doi":"10.3233/JHD-240034","DOIUrl":"10.3233/JHD-240034","url":null,"abstract":"Background: Juvenile-onset Huntington's disease (JHD) represents 1-5% of Huntington's disease (HD) patients, with onset before the age of 21. Pediatric HD (PHD) relates to a proportion of JHD patients that is still under 18 years of age. So far, both populations have been excluded from interventional trials.Objective: Describe the prevalence and incidence of JHD and PHD in the Netherlands and explore their ability to participate in interventional trials.Methods: The prevalence and incidence of PHD and JHD patients in the Netherlands were analyzed. In addition, we explored proportions of JHD patients diagnosed at pediatric versus adult age, their diagnostic delay, and functional and modelled (CAP100) disease stage in JHD and adult-onset HD patients at diagnosis.Results: The prevalence of JHD and PHD relative to the total manifest HD population in January 2024 was between 0.84-1.25% and 0.09-0.14% respectively. The mean incidence of JHD patients being diagnosed was between 0.85-1.28 per 1000 patient years and of PHD 0.14 per 1.000.000 under-aged person years. 55% of JHD cases received a clinical diagnosis on adult age. At diagnosis, the majority of JHD patients was functionally compromised and adolescent-onset JHD patients were significantly less independent compared to adult-onset HD patients.Conclusions: In the Netherlands, the epidemiology of JHD and PHD is lower than previously suggested. More than half of JHD cases are not eligible for trials in the PHD population. Furthermore, higher functional dependency in JHD patients influences their ability to participate in trials. Lastly, certain UHDRS functional assessments and the CAP100 score do not seem appropriate for this particular group.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"357-368"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11492014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141909822","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}

引用次数: 0

Economic Burden of Huntington's Disease: Analysis from a Brazilian Tertiary Care Perspective. 亨廷顿氏病的经济负担：从巴西三级医疗机构的角度进行分析。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240025

Andressa da Silva van der Laan, Vanderci Borges, Roberta Arb Saba, Henrique Ballalai Ferraz

{"title":"Economic Burden of Huntington's Disease: Analysis from a Brazilian Tertiary Care Perspective.","authors":"Andressa da Silva van der Laan, Vanderci Borges, Roberta Arb Saba, Henrique Ballalai Ferraz","doi":"10.3233/JHD-240025","DOIUrl":"10.3233/JHD-240025","url":null,"abstract":"Background: Huntington's disease (HD) exerts significant impacts on individuals and families worldwide. Nevertheless, data on its economic burden in Brazil are scarce, revealing a critical gap in understanding the associated healthcare costs.Objective: This study was conducted at a tertiary neurology outpatient clinic in Brazil with the aim of assessing annual healthcare service utilization and associated costs for HD patients.Methods: We conducted a cross-sectional observational study involving 34 HD patients. A structured questionnaire was applied to collect data on direct medical costs (outpatient services, medications), non-medical direct costs (complementary therapies, mobility aids, home adaptations), and indirect costs (lost productivity, caregiver costs, government benefits) over one year.Results: Significant economic impacts were observed, with average annual direct medical costs of $4686.82 per HD patient. Non-medical direct and indirect costs increased the financial burden, highlighting extensive resource utilization beyond healthcare services. Thirty-three out of 34 HD patients were unemployed or retired, and 16 relied on government benefits, reflecting broader socioeconomic implications. Despite the dataset's limitations, it provides crucial insights into the economic impact of HD on patients and the Brazilian public health system.Conclusions: The findings underscore the urgent need for a more comprehensive evaluation of the costs to inform governmental policies related to HD. Future research is needed to expand the data pool and develop a nuanced understanding of the economic burdens of HD to help formulate effective healthcare strategies for patients.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"349-356"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141992338","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}

引用次数: 0

Speech Biomarkers in Huntington's Disease: A Longitudinal Follow-Up Study in Premanifest Mutation Carriers. 亨廷顿舞蹈症的语言生物标志物：显性前突变携带者的纵向随访研究

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240021

Carsten Saft, Julia Jessen, Rainer Hoffmann, Carsten Lukas, Sabine Skodda

引用次数: 0

Oropharyngeal Dysphagia Phenotypes Across Huntington's Disease Stages: Endoscopic Findings and Tongue Pressure Analysis. 亨廷顿氏病各期的口咽吞咽困难表型：内窥镜检查结果和舌压分析。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231519

Nicole Pizzorni, Andrea Ciammola, Chiara Pirola, Lorenzo Nanetti, Anna Castaldo, Barbara Poletti, Caterina Mariotti, Antonio Schindler

{"title":"Oropharyngeal Dysphagia Phenotypes Across Huntington's Disease Stages: Endoscopic Findings and Tongue Pressure Analysis.","authors":"Nicole Pizzorni, Andrea Ciammola, Chiara Pirola, Lorenzo Nanetti, Anna Castaldo, Barbara Poletti, Caterina Mariotti, Antonio Schindler","doi":"10.3233/JHD-231519","DOIUrl":"10.3233/JHD-231519","url":null,"abstract":"Background: Oropharyngeal dysphagia (OD) is a common symptom in Huntington's disease (HD) and is associated with severe health and psychosocial consequences. Different OD phenotypes are defined on the basis of characteristic patterns at fiberoptic endoscopic evaluation of swallowing (FEES), and they may vary during disease progression.Objective: To describe OD phenotypes in different HD stages and to analyze their association with neurological data and tongue pressure measurements.Methods: Twenty-four patients with HD at different stages of disease progression underwent a FEES. Data on penetration/aspiration, pharyngeal residue, and OD phenotypes were gained. Neurological examination was performed with the Unified Huntington's Disease Rating Scale (UHDRS). Patient Maximum tongue pressure (MTP) and tongue endurance were measured.Results: We confirmed that the occurrence of penetration/aspiration increased with disease duration and pharyngeal residue increased from 16.7% to 100%, respectively. The most common OD phenotypes were oropharyngeal dyspraxia (91.7%), posterior oral incontinence (87.5%), and delayed pharyngeal phase (87.5%). These types of dysfunctions are already detectable in >80% of patients in the early disease stages. In more advanced stages, we also observed propulsion deficit (66.7%), resistive issue (54.2%), and protective deficit (37.5%). Propulsion deficit was associated with higher disease stage, greater motor dysfunction (UHDRS-I), and lower MTP and tongue endurance (p < 0.05).Conclusions: OD in HD results from a combination of different swallowing phenotypes. Early assessment of swallowing and periodical follow-ups are necessary to monitor OD severity and phenotypes and to revise diet recommendations.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"225-235"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141184066","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}

引用次数: 0

White Matter Microstructure Changes Revealed by Diffusion Kurtosis and Diffusion Tensor Imaging in Mutant Huntingtin Gene Carriers. 通过扩散峰度和扩散张量成像揭示突变亨廷汀基因携带者的白质微结构变化

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240018

Jin-Hui Yin, Ya-Ou Liu, Hong-Liang Li, Jean Marc Burgunder, Yue Huang

{"title":"White Matter Microstructure Changes Revealed by Diffusion Kurtosis and Diffusion Tensor Imaging in Mutant Huntingtin Gene Carriers.","authors":"Jin-Hui Yin, Ya-Ou Liu, Hong-Liang Li, Jean Marc Burgunder, Yue Huang","doi":"10.3233/JHD-240018","DOIUrl":"10.3233/JHD-240018","url":null,"abstract":"Background: Diffusion magnetic resonance imaging (dMRI) has revealed microstructural changes in white matter (WM) in Huntington's disease (HD).Objective: To compare the validities of different dMRI, i.e., diffusion kurtosis imaging (DKI) and diffusion tensor imaging (DTI) in HD.Methods: 22 mutant huntingtin (mHTT) carriers and 14 controls were enrolled. Clinical assessments and dMRI were conducted. Based on CAG-Age Product (CAP) score, mHTT carriers were categorized into high CAP (hCAP) and medium and low CAP (m& lCAP) groups. Spearman analyses were used to explore correlations between imaging parameters in brain regions and clinical assessments. Receiver operating characteristic (ROC) was used to distinguish mHTT carriers from control, and define the HD patients at advanced stage.Results: Compared to controls, mHTT carriers exhibited WM changes in DKI and DTI. There were 22 more regions showing significant differences in HD detected by MK than FA. Only MK in five brain regions showed significantly difference between any two group, and negatively correlated with the disease burden (r = -0.80 to -0.71). ROC analysis revealed that MK was more sensitive and FA was more specific, while Youden index showed that the integration of FA and MK gave rise to higher authenticities, in distinguishing m& lCAP from controls (Youden Index = 0.786), and discerning different phase of HD (Youden Index = 0.804).Conclusions: Microstructural changes in WM occur at early stage of HD and deteriorate over the disease progression. Integrating DKI and DTI would provide the best accuracies for differentiating early HD from control and identifying advanced HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"301-313"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11494636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141436976","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}

引用次数: 0