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

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":"13 3","pages":"315-320"},"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

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

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":" ","pages":"375-383"},"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

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。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-04-27 DOI: 10.3233/JHD-239000

引用次数: 0

Upcoming Meetings Related to Huntington's Disease. 即将举行的亨廷顿氏症相关会议。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-239007

引用次数: 0

Huntington's Disease Clinical Trials Corner: August 2023. 亨廷顿氏病临床试验角:2023年8月。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-239001

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

引用次数: 0

Abstracts of the 30th Annual Meeting of the Huntington Study Group®, November 2-4, 2023. 亨廷顿研究小组第30届年会摘要®，2023年11月2-4日。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD239005

引用次数: 0

Sleep and Circadian Rhythm Dysfunction in Animal Models of Huntington's Disease. 亨廷顿舞蹈病动物模型的睡眠和昼夜节律障碍

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-230574

A Jennifer Morton

引用次数: 1

Upregulated Chaperone-Mediated Autophagy May Perform a Key Role in Reduced Cancer Incidence in Huntington's Disease. 上调伴侣介导的自噬可能在降低亨廷顿舞蹈症癌症发病率中发挥关键作用。

IF 3.1

Journal of Huntington's disease Pub Date : 2023-01-01 DOI: 10.3233/JHD-230586

Lis Frydenreich Hasholt

{"title":"Upregulated Chaperone-Mediated Autophagy May Perform a Key Role in Reduced Cancer Incidence in Huntington's Disease.","authors":"Lis Frydenreich Hasholt","doi":"10.3233/JHD-230586","DOIUrl":"10.3233/JHD-230586","url":null,"abstract":"Incidence of cancer is markedly reduced in patients with the hereditary neurodegenerative polyglutamine (polyQ) diseases. We have very poor knowledge of the underlying molecular mechanisms, but the expanded polyQ sequence is assumed to play a central role, because it is common to the respective disease related proteins. The inhibition seems to take place in all kinds of cells, because the lower cancer frequency applies to nearly all types of tumors and is not related with the characteristic pathological changes in specific brain tissues. Further, the cancer repressing mechanisms appear to be active early in life including in pre-symptomatic and early phase polyQ patients. Autophagy plays a central role in clearing proteins with expanded polyQ tracts, and autophagy modulation has been demonstrated and particularly investigated in Huntington's disease (HD). Macroautophagy may be dysfunctional due to defects in several steps of the process, whereas increased chaperone-mediated autophagy (CMA) has been shown in HD patients, cell and animal models. Recently, CMA is assumed to play a key role in prevention of cellular transformation of normal cells into cancer cells. Investigations of normal cells from HD and other polyQ carriers could therefore add further insight into the protective mechanisms of CMA in tumorigenesis, and be important for development of autophagy based strategies to prevent malignant processes leading to cancer and neurodegeneration.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"371-376"},"PeriodicalIF":3.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11091607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71482402","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