Journal of Huntington's disease最新文献

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Clinical Review of Juvenile Huntington's Disease. 青少年亨廷顿氏病临床回顾。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231523
Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann, Carsten Saft, Helen Santini, Ferdinando Squitieri, Sarah Tabrizi, Jean-Marc Burgunder, Oliver Quarrell
{"title":"Clinical Review of Juvenile Huntington's Disease.","authors":"Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann, Carsten Saft, Helen Santini, Ferdinando Squitieri, Sarah Tabrizi, Jean-Marc Burgunder, Oliver Quarrell","doi":"10.3233/JHD-231523","DOIUrl":"10.3233/JHD-231523","url":null,"abstract":"<p><p> Juvenile Huntington's disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington's disease (AOHD). Cognitive decline is mostly detected by declining school performances. Behavioral symptoms in general do not differ from AOHD but may be confused with autism spectrum disorder or attention deficit hyperactivity disorder and lead to misdiagnosis and/or diagnostic delay. JHD specific features are epilepsy, ataxia, spasticity, pain, itching, and possibly liver steatosis. Disease progression of JHD is faster compared to AOHD and the disease duration is shorter, particularly in case of higher CAG repeat lengths. The diagnosis is based on clinical judgement in combination with a positive family history and/or DNA analysis after careful consideration. Repeat length in JHD is usually > 55 and caused by anticipation, usually via paternal transmission. There are no pharmacological and multidisciplinary guidelines for JHD treatment. Future perspectives for earlier diagnosis are better diagnostic markers such as qualitative MRI and neurofilament light in serum.</p>","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/PMC11307030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856129","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
Neuroimaging to Facilitate Clinical Trials in Huntington's Disease: Current Opinion from the EHDN Imaging Working Group. 神经成像促进亨廷顿氏病的临床试验:EHDN成像工作组的当前观点。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240016
Nicola Z Hobbs, Marina Papoutsi, Aline Delva, Kirsi M Kinnunen, Mitsuko Nakajima, Koen Van Laere, Wim Vandenberghe, Priyantha Herath, Rachael I Scahill
{"title":"Neuroimaging to Facilitate Clinical Trials in Huntington's Disease: Current Opinion from the EHDN Imaging Working Group.","authors":"Nicola Z Hobbs, Marina Papoutsi, Aline Delva, Kirsi M Kinnunen, Mitsuko Nakajima, Koen Van Laere, Wim Vandenberghe, Priyantha Herath, Rachael I Scahill","doi":"10.3233/JHD-240016","DOIUrl":"10.3233/JHD-240016","url":null,"abstract":"<p><p> Neuroimaging is increasingly being included in clinical trials of Huntington's disease (HD) for a wide range of purposes from participant selection and safety monitoring, through to demonstration of disease modification. Selection of the appropriate modality and associated analysis tools requires careful consideration. On behalf of the EHDN Imaging Working Group, we present current opinion on the utility and future prospects for inclusion of neuroimaging in HD trials. Covering the key imaging modalities of structural-, functional- and diffusion- MRI, perfusion imaging, positron emission tomography, magnetic resonance spectroscopy, and magnetoencephalography, we address how neuroimaging can be used in HD trials to: 1) Aid patient selection, enrichment, stratification, and safety monitoring; 2) Demonstrate biodistribution, target engagement, and pharmacodynamics; 3) Provide evidence for disease modification; and 4) Understand brain re-organization following therapy. We also present the challenges of translating research methodology into clinical trial settings, including equipment requirements and cost, standardization of acquisition and analysis, patient burden and invasiveness, and interpretation of results. We conclude, that with appropriate consideration of modality, study design and analysis, imaging has huge potential to facilitate effective clinical trials in HD.</p>","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/PMC11307036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141093492","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
Deciphering Cognitive Impairments in Huntington's Disease: A Comparative Study of Stroop Test Variations. 解密亨廷顿氏症的认知障碍:斯特罗普测试变异比较研究
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231528
Luis A Sierra, Amy Wynn, Ella Lanzaro, Katya Dzekon, Aine Russell, Mark Halko, Daniel O Claassen, Samuel Frank, Ciaran M Considine, Simon Laganiere
{"title":"Deciphering Cognitive Impairments in Huntington's Disease: A Comparative Study of Stroop Test Variations.","authors":"Luis A Sierra, Amy Wynn, Ella Lanzaro, Katya Dzekon, Aine Russell, Mark Halko, Daniel O Claassen, Samuel Frank, Ciaran M Considine, Simon Laganiere","doi":"10.3233/JHD-231528","DOIUrl":"10.3233/JHD-231528","url":null,"abstract":"<p><strong>Background: </strong>Huntington's disease (HD) is a neurodegenerative disorder marked by cognitive impairment, movement abnormalities, and behavioral disturbances. The Stroop Color Word Test (SCWT) is a widely used tool to detect cognitive decline in HD. Variations in SCWT formats-horizontal (original) and vertical (Golden)-may influence performance, given HD's impact on cognitive and oculomotor abilities.</p><p><strong>Objective: </strong>This study aimed to compare the effectiveness of the horizontal and Golden vertical SCWT formats in detecting cognitive decline in HD, and to determine how performance may have been influenced by eye movement abnormalities.</p><p><strong>Methods: </strong>Forty-five participants with genetically confirmed HD were recruited. Both SCWT formats were administered to each participant in a counterbalanced fashion. Individual performance of all three sections on each format was standardized across 2 different norms. Raw and normed scores on each variation were compared and correlated with eye movement ratings on the Unified Huntington's Disease Rating Scale.</p><p><strong>Results: </strong>The Golden variation elicited significantly slower responses, particularly in the Word Reading section, across two benchmark norms. Statistical analysis revealed significant performance differences between the two formats. Correlations between vertical eye movement ratings and performance on the Golden SCWT were highly significant, highlighting the impact of oculomotor coordination on cognitive assessments in HD.</p><p><strong>Conclusion: </strong>This study underscores the importance of considering test format in cognitive assessments for HD. The Golden vertical SCWT demonstrates increased sensitivity in detecting deficits in HD, possibly linked to vertical saccade abnormalities. These insights are important for improving the sensitivity of cognitive assessments and monitoring disease progression in HD research and clinical practice.</p>","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":"140957232","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
Coping with Huntington's Disease in Patients and At-Risk Individuals. 患者和高危人群如何应对亨廷顿氏症。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240027
Abigail L B Snow, Abagail E Ciriegio, Kelly H Watson, Mary G Baumann, Anna C Pfalzer, Spencer Diehl, Kathleen Duncan, Katherine E McDonell, Daniel O Claassen, Bruce E Compas
{"title":"Coping with Huntington's Disease in Patients and At-Risk Individuals.","authors":"Abigail L B Snow, Abagail E Ciriegio, Kelly H Watson, Mary G Baumann, Anna C Pfalzer, Spencer Diehl, Kathleen Duncan, Katherine E McDonell, Daniel O Claassen, Bruce E Compas","doi":"10.3233/JHD-240027","DOIUrl":"10.3233/JHD-240027","url":null,"abstract":"<p><strong>Background: </strong>Huntington's disease (HD) presents patients and individuals at risk for HD with significant levels of stress. However, relatively little research has examined how individuals cope with stress related to the disease or the association of specific coping strategies with psychological symptoms.</p><p><strong>Objective: </strong>This study examined the ways in which HD patients and at-risk individuals cope with HD-related stress using a control-based model of coping and the association of coping strategies with symptoms of depression and anxiety.</p><p><strong>Methods: </strong>HD patients (n = 49) and at-risk individuals (n = 76) completed the Responses to Stress Questionnaire - Huntington's Disease Version to assess coping strategies in response to HD-related stress, as well as standardized measures of depression and anxiety symptoms. Patient health records were accessed to obtain information related to disease characteristics.</p><p><strong>Results: </strong>Patients and at-risk individuals reported using comparable levels of primary control coping, secondary control coping, and disengagement coping strategies. In linear regression analyses, only secondary control coping was significantly associated with lower depression (β= -0.62, p < 0.001) and anxiety (β= -0.59, p < 0.001) symptoms in patients and at-risk individuals (β= -0.55, p < 0.001 and β= -0.50, p < 0.001, respectively).</p><p><strong>Conclusions: </strong>Secondary control coping may be beneficial for both HD patients and at-risk individuals. Future research using the control-based model of coping in longitudinal studies with the HD population is needed, and future interventions could test the effects of cognitive reframing and acceptance as coping strategies for families affected by HD.</p>","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":"141992337","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
Intensification of Diurnal Abnormal Movements During Sleep in Huntington's Disease. 亨廷顿舞蹈症患者睡眠时的昼夜异常运动加剧
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231518
Louis Salaun, Thomas Bonduelle, Imad Ghorayeb, Umberto Spampinato, Sabrina Debruxelles, Dominique Guehl, Cyril Goizet
{"title":"Intensification of Diurnal Abnormal Movements During Sleep in Huntington's Disease.","authors":"Louis Salaun, Thomas Bonduelle, Imad Ghorayeb, Umberto Spampinato, Sabrina Debruxelles, Dominique Guehl, Cyril Goizet","doi":"10.3233/JHD-231518","DOIUrl":"10.3233/JHD-231518","url":null,"abstract":"<p><p>Huntington's disease (HD) is a rare neurodegenerative disorder with a distinct phenotype, including involuntary movements, cognitive decline, and behavioral disturbances. Sleep disorder include insomnia, increased sleep onset latency, decrease in total sleep time with frequent nocturnal awakenings and excessive daytime sleepiness. Increased sleep motor activities and abnormal nocturnal agitation have been increasingly recognized as an important component affecting negatively the sleep quality. Here, we report a case of an intensification of diurnal choreic movement during the night, notably during REM-sleep in a patient with manifest HD. This case highlights the diversity of nocturnal sleep motor disorders encountered in HD.</p>","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":"141093476","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
Protective Proteolysis in Huntington's Disease: Unraveling the Role of Post-Translational Myristoylation of Huntingtin in Autophagy. 亨廷顿氏病的保护性蛋白分解:揭示亨廷顿蛋白翻译后肉豆蔻酰化在自噬中的作用
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240028
Yasmeen Alshehabi, Dale D O Martin
{"title":"Protective Proteolysis in Huntington's Disease: Unraveling the Role of Post-Translational Myristoylation of Huntingtin in Autophagy.","authors":"Yasmeen Alshehabi, Dale D O Martin","doi":"10.3233/JHD-240028","DOIUrl":"10.3233/JHD-240028","url":null,"abstract":"<p><p> Huntington's disease (HD) is a devastating neurodegenerative disorder characterized by impaired motor function and cognitive decline, ultimately leading to death. HD is caused by a polyglutamine expansion in the N-terminal region of the huntingtin (HTT) protein, which is linked to decreased HTT turnover, increased HTT proteolysis, increased HTT aggregation, and subsequent neuronal death. In this review, we explore the mechanism of the protective effect of blocking HTT proteolysis at D586, which has been shown to rescue the HD phenotype in HD mouse models. Until recently, the mechanism remained unclear. Herein, we discuss how blocking HTT proteolysis at D586 promotes HTT turnover by correcting autophagy, and making HTT a better autophagy substrate, through post-translational myristoylation of HTT at G553.</p>","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/PMC11492065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141600248","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
Rasch Measurement Theory (RMT) Analyses of the Huntington's Disease Everyday Functioning (Hi-DEF) to Evaluate Item Fit and Performance. 对亨廷顿氏病日常功能(Hi-DEF)进行拉施测量理论(RMT)分析,以评估项目拟合度和性能。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240001
Jennifer Petrillo, Ruta Sawant, Emma Elliott, Sophie Cleanthous, Rebecca Rogers, Stefan Cano, Sarah Baradaran, Jason Johannesen
{"title":"Rasch Measurement Theory (RMT) Analyses of the Huntington's Disease Everyday Functioning (Hi-DEF) to Evaluate Item Fit and Performance.","authors":"Jennifer Petrillo, Ruta Sawant, Emma Elliott, Sophie Cleanthous, Rebecca Rogers, Stefan Cano, Sarah Baradaran, Jason Johannesen","doi":"10.3233/JHD-240001","DOIUrl":"10.3233/JHD-240001","url":null,"abstract":"<p><strong>Background: </strong>The Huntington's Disease (HD) Everyday Functioning (Hi-DEF) is a new patient-reported outcome (PRO) instrument designed to measure the impact of cognitive impairment on daily functioning in the early stages of HD.</p><p><strong>Objective: </strong>To assess the measurement properties and finalize item content of the Hi-DEF.</p><p><strong>Methods: </strong>A cross-sectional, observational psychometric validation study was conducted among individuals with early stages of HD at 9 US centers of excellence. Rasch Measurement Theory (RMT) analysis of the initial draft version of the Hi-DEF (47 items) and subscales (i.e., 'Home', 'At work', 'Driving', and 'Communication') was conducted to examine measurement properties including sample-to-scale targeting, suitability of response scale (ordering of response thresholds), scale cohesiveness (item fit), local independence, and person fit.</p><p><strong>Results: </strong>151 participants (mean age 47 years (SD 12), 59% female) were included. Seven items were removed based on dependency and item fit. The remaining 40-item version of the Hi-DEF demonstrated good measurement properties. Across the four subscales, targeting ranged from 49-70% (72% full scale), reliability ascertained by person separation index ranged from 0.53-0.87 (0.92 full scale), response scales were ordered for 25-100% of items (75% full scale), 0-12% items displayed misfit (2% full scale), and 0-1% (2% full scale) item pairs displayed dependency.</p><p><strong>Conclusions: </strong>Our study supports the psychometric integrity of the Hi-DEF as a reliable and valid new PRO instrument designed to assess the impact of cognitive impairment on daily functioning in the early stages of HD. Future work will evaluate the external validity and utility in clinical trial applications.</p>","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/PMC11492140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108105","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
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 3.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240017
Carlos Estevez-Fraga, Sarah J Tabrizi, Edward J Wild
{"title":"Huntington's Disease Clinical Trials Corner: March 2024.","authors":"Carlos Estevez-Fraga, Sarah J Tabrizi, Edward J Wild","doi":"10.3233/JHD-240017","DOIUrl":"10.3233/JHD-240017","url":null,"abstract":"<p><p>In this edition of the Huntington's Disease Clinical Trials Update, we expand on the ongoing program from VICO Therapeutics and on the recently terminated VIBRANT-HD clinical trials. We also discuss updates from uniQure's AMT-130 program and PTC therapeutics' trial of PTC518 and list all currently registered and ongoing clinical trials in Huntington's disease.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11091610/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140136910","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
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":"<p><strong>Background: </strong>People with Huntington's disease (HD) exhibit neurocognitive alterations throughout the disease, including deficits in social cognitive processes such as Theory of Mind (ToM).</p><p><strong>Objective: </strong>The aim is to identify methodologies and ToM instruments employed in HD, alongside relevant findings, within the scientific literature of the past two decades.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","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":"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
Refining the Language of Huntington's Disease Progression with the Huntington's Disease Integrated Staging System (HD-ISS). 利用亨廷顿氏病综合分期系统(HD-ISS)完善亨廷顿氏病进展语言。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240043
Cristina Sampaio, Sandra K Kostyk, Sarah J Tabrizi, Anne E Rosser
{"title":"Refining the Language of Huntington's Disease Progression with the Huntington's Disease Integrated Staging System (HD-ISS).","authors":"Cristina Sampaio, Sandra K Kostyk, Sarah J Tabrizi, Anne E Rosser","doi":"10.3233/JHD-240043","DOIUrl":"10.3233/JHD-240043","url":null,"abstract":"","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/PMC11307057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141537924","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
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