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

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

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

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

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

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

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

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