Journal of Huntington's disease最新文献_第3页

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 3.1

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

Assessment of Perivascular Space Morphometry Across the White Matter in Huntington's Disease Using MRI. 利用核磁共振成像评估亨廷顿氏病白质中的血管周围空间形态。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231508

Annabelle Coleman, Mackenzie T Langan, Gaurav Verma, Harry Knights, Aaron Sturrock, Blair R Leavitt, Sarah J Tabrizi, Rachael I Scahill, Nicola Z Hobbs

{"title":"Assessment of Perivascular Space Morphometry Across the White Matter in Huntington's Disease Using MRI.","authors":"Annabelle Coleman, Mackenzie T Langan, Gaurav Verma, Harry Knights, Aaron Sturrock, Blair R Leavitt, Sarah J Tabrizi, Rachael I Scahill, Nicola Z Hobbs","doi":"10.3233/JHD-231508","DOIUrl":"10.3233/JHD-231508","url":null,"abstract":"Background: Perivascular spaces (PVS) are fluid-filled cavities surrounding small cerebral blood vessels. There are limited reports of enlarged PVS across the grey matter in manifest Huntington's disease (HD). Little is known about how PVS morphometry in the white matter may contribute to HD. Enlarged PVS have the potential to both contribute to HD pathology and affect the distribution and success of intraparenchymal and intrathecally administered huntingtin-lowering therapies.Objective: To investigate PVS morphometry in the global white matter across the spectrum of HD. Relationships between PVS morphometry and disease burden and severity measures were examined.Methods: White matter PVS were segmented on 3T T2 W MRI brain scans of 33 healthy controls, 30 premanifest HD (pre-HD), and 32 early manifest HD (early-HD) participants from the Vancouver site of the TRACK-HD study. PVS count and total PVS volume were measured.Results: PVS total count slightly increased in pre-HD (p = 0.004), and early-HD groups (p = 0.005), compared to healthy controls. PVS volume, as a percentage of white matter volume, increased subtly in pre-HD compared to healthy controls (p = 0.044), but not in early-HD. No associations between PVS measures and HD disease burden or severity were found.Conclusions: This study reveals relatively preserved PVS morphometry across the global white matter of pre-HD and early-HD. Subtle morphometric abnormalities are implied but require confirmation in a larger cohort. However, in conjunction with previous publications, further investigation of PVS in HD and its potential impact on future treatments, with a focus on subcortical grey matter, is warranted.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"91-101"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140189700","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

Alterations in Cerebrospinal Fluid Urea Occur in Late Manifest Huntington's Disease. 晚期亨廷顿症患者脑脊液尿素发生变化

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231511

Anna C Pfalzer, Shuhei Shiino, James Silverman, Simona G Codreanu, Stacy D Sherrod, John A McLean, Daniel O Claassen

{"title":"Alterations in Cerebrospinal Fluid Urea Occur in Late Manifest Huntington's Disease.","authors":"Anna C Pfalzer, Shuhei Shiino, James Silverman, Simona G Codreanu, Stacy D Sherrod, John A McLean, Daniel O Claassen","doi":"10.3233/JHD-231511","DOIUrl":"10.3233/JHD-231511","url":null,"abstract":"Background: Huntington's disease (HD) is a neurodegenerative disorder caused by expanded cytosine-adenine-guanine (CAG) repeats in the Huntingtin gene, resulting in the production of mutant huntingtin proteins (mHTT). Previous research has identified urea as a key metabolite elevated in HD animal models and postmortem tissues of HD patients. However, the relationship between disease course and urea elevations, along with the molecular mechanisms responsible for these disturbances remain unknown.Objective: To better understand the molecular disturbances and timing of urea cycle metabolism across different stages in HD.Methods: We completed a global metabolomic profile of cerebrospinal fluid (CSF) from individuals who were at several stages of disease: pre-manifest (PRE), manifest (MAN), and late manifest (LATE) HD participants, and compared to controls.Results: Approximately 500 metabolites were significantly altered in PRE participants compared to controls, although no significant differences in CSF urea or urea metabolites were observed. CSF urea was significantly elevated in LATE participants only. There were no changes in the urea metabolites citrulline, ornithine, and arginine.Conclusions: Overall, our study confirms that CSF elevations occur late in the HD course, and these changes may reflect accumulating deficits in cellular energy metabolism.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"103-111"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11238568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094195","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

Characterizing Heart Rate Variability Response to Maximal Exercise Testing in People with Huntington's Disease. 描述亨廷顿氏病患者对最大运动量测试的心率变异反应。

IF 3.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-230593

Haoyu Li, Radhika Desai, Norberto Quiles, Lori Quinn, Ciarán Friel

{"title":"Characterizing Heart Rate Variability Response to Maximal Exercise Testing in People with Huntington's Disease.","authors":"Haoyu Li, Radhika Desai, Norberto Quiles, Lori Quinn, Ciarán Friel","doi":"10.3233/JHD-230593","DOIUrl":"10.3233/JHD-230593","url":null,"abstract":"Background: Huntington's disease (HD) is an autosomal dominant, neurodegenerative disease that involves dysfunction in the autonomic nervous system (ANS). Heart rate variability (HRV) is a valid and noninvasive measure for ANS dysfunction, yet no study has characterized HRV response to exercise in people with HD.Objective: Characterize HRV response to exercise in individuals with HD and explore its implications for exercise prescription and cardiac dysautonomia mechanisms.Methods: 19 participants with HD were recruited as part of a cohort of individuals enrolled in the Physical Activity and Exercise Outcomes in Huntington's Disease (PACE-HD) study at Teachers College, Columbia University (TC). 13 non-HD age- and gender-matched control participants were also recruited from TC. HRV was recorded with a Polar H10 heart rate (HR) monitor before, during, and after a ramp cycle-ergometer exercise test.Results: Participants with HD showed reduced HR peak (p < 0.01) and HR reserve (p < 0.001) compared with controls. Participants with HD demonstrated reduced root mean square of successive differences between normal-to-normal intervals (RMSSD) and successive differences of normal-to-normal intervals (SDSD) at rest (p < 0.001). Participants with HD also showed differences for low frequency (LF) power (p < 0.01), high frequency (HF) normalized units (nu) (p < 0.05), LF (nu) (p < 0.001), and HF/LF ratio (p < 0.05) compared with controls.Conclusions: We found reduced aerobic exercise capacity and sympathovagal dysautonomia both at rest and during post-exercise recovery in people with HD, suggesting modified exercise prescription may be required for people with HD. Further investigations focusing on cardiac dysautonomia and underlying mechanisms of sympathovagal dysautonomia in people with HD are warranted.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"67-76"},"PeriodicalIF":3.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140136907","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

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

In Memoriam: Ira Shoulson, MD. 悼念：艾拉-舒尔松（Ira Shoulson）医学博士。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-249002

E Ray Dorsey, Karen E Anderson

引用次数: 0