Journal of Huntington's disease最新文献_第4页

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":null,"pages":null},"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

Structural MRI Correlates of Anosognosia in Huntington's Disease. 亨廷顿舞蹈症患者失认症的结构磁共振成像相关性。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240010

Jared T Hinkle, Erin Wildermuth, Xiao J Tong, Christopher A Ross, Jee Bang

{"title":"Structural MRI Correlates of Anosognosia in Huntington's Disease.","authors":"Jared T Hinkle, Erin Wildermuth, Xiao J Tong, Christopher A Ross, Jee Bang","doi":"10.3233/JHD-240010","DOIUrl":"https://doi.org/10.3233/JHD-240010","url":null,"abstract":"Background: Anosognosia, or unawareness of symptoms, is common in Huntington's disease (HD), but the neuroanatomical basis of this is unknown.Objective: To identify neuroanatomical correlates of HD anosognosia using structural MRI data.Methods: We leveraged a pre-processed dataset of 570 HD participants across the well-characterized PREDICT-HD and TRACK-HD cohort studies. Anosognosia index was operationalized as the score discrepancies between HD participants and their caregivers on the Frontal Systems Behavior Scale (FrSBe).Results: Univariate correlation analyses identified volumes of globus pallidus, putamen, caudate, basal forebrain, substantia nigra, angular gyrus, and cingulate cortex as significant correlates of anosognosia after correction for multiple comparisons. A multivariable model constructed with stepwise regression that included volumetric data showed globus pallidus volume alone explained more variance in anosognosia severity than motor impairment or CAP score alone.Conclusions: Anosognosia appears to be related to degeneration affecting both cortical and subcortical areas. Globus pallidus neurodegeneration in particular appears to be a key process of importance.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289161","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

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

Promoting Physical Activity in Huntington's Disease: Co-Design of a Care Partner Resource. 促进亨廷顿氏症患者的体育锻炼：共同设计护理伙伴资源。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240014

Una Jones, Katy Hamana, Monica Busse

{"title":"Promoting Physical Activity in Huntington's Disease: Co-Design of a Care Partner Resource.","authors":"Una Jones, Katy Hamana, Monica Busse","doi":"10.3233/JHD-240014","DOIUrl":"10.3233/JHD-240014","url":null,"abstract":"Background: Clinical guidelines recommend that people with Huntington's disease (HD) should exercise to maintain/improve fitness and motor function, yet physical activity levels remain low in this group. Promotion of physical activity is often via care partners with little evidence that they are supported in this role.Objective: The aim was to co-design a resource for care partners of people with HD to support promotion of physical activity.Methods: A four-step co-design approach was used to develop a care partner resource. Five care partners took part in an online workshop exploring experiences and the knowledge, support and skills needed by care partners to promote physical activity. A co-design team (n = 7) developed a prototype that was user tested by three people who had attended the workshop. Findings from user testing were used to develop the final resource.Results: An easy to read, image-based prototype was developed that contained tips on planning activity, safety and activity examples. User testing identified the need for grouping of activities suitable for 10, 20, and 30 minutes of available time, information on maintaining and improving activity and re-organization of information to support engagement of activity.Conclusions: A resource for care partners that has been translated into seven languages was developed to promote physical activity. User testing indicated confidence in using the resource and appreciation of the autonomy provided to the person with HD to plan activities. Further work is needed to evaluate the impact of the resource in promotion of physical activity and the impact on care partner burden.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141731277","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

A Case Series of Delusional Infestation in Huntington's Disease. 亨廷顿舞蹈症妄想症病例系列。

IF 2.1

Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240013

Wenxin Song, Lauren Daneman, Alexis Cohen-Oram, Stephen Aradi

引用次数: 0

Chorea in the Elderly: A Differential Diagnosis and Case Report of Late-Onset Huntington’s Disease in an Octogenarian 老年人舞蹈症：一名八旬老人晚期亨廷顿氏病的鉴别诊断和病例报告

IF 3.1

Journal of Huntington's disease Pub Date : 2023-12-08 DOI: 10.3233/jhd-230596

Alissa S. Higinbotham, Suzanne D. DeBrosse, S. Gunzler

引用次数: 0

Upcoming Meetings Related to Huntington's Disease. 即将召开的与亨廷顿舞蹈病相关的会议。