Journal of Huntington's disease最新文献

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Emerging roles of microglia and neuroinflammation in Huntington's disease: From pathophysiology to clinical trials. 小胶质细胞和神经炎症在亨廷顿病中的新作用:从病理生理学到临床试验。
IF 2.1
Journal of Huntington's disease Pub Date : 2025-03-28 DOI: 10.1177/18796397251330144
Muna Abedrabbo, Pardis Kazemian, Colúm Connolly, Blair R Leavitt
{"title":"Emerging roles of microglia and neuroinflammation in Huntington's disease: From pathophysiology to clinical trials.","authors":"Muna Abedrabbo, Pardis Kazemian, Colúm Connolly, Blair R Leavitt","doi":"10.1177/18796397251330144","DOIUrl":"https://doi.org/10.1177/18796397251330144","url":null,"abstract":"<p><p>Microglia, the resident immune cells of the central nervous system, play a pivotal role in the response to Huntington's disease (HD) pathology. Through both cell-autonomous mechanisms and exposure to external pathogenic stimuli, microglia transition from a resting to an activated state, producing pro-inflammatory cytokines and chemokines that mediate inflammation. While this inflammatory response attempts to have a neuroprotective compensatory effect, chronic microglial activation exacerbates neuroinflammation, neurodegeneration and contributes to disease progression. Evidence from postmortem analyses and neuroimaging studies indicates that activated microglia are present in various stages of HD, correlating with neuronal degeneration and clinical symptoms. Enhanced microglial activation has been identified as an early predictor of disease onset, particularly in premanifest HD, highlighting the potential of targeting microglial pathways for therapeutic interventions. This review explores microglia's dual role in HD pathophysiology, exploring their contributions to both neuroinflammation and neuroprotection. It also examines recent advances in clinical trials aimed at modulating microglial activity, paving the way for novel therapeutic strategies to alter disease progression and improve patient outcomes.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251330144"},"PeriodicalIF":2.1,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730320","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
The glymphatic system in Huntington's disease. 亨廷顿氏病的淋巴系统。
IF 2.1
Journal of Huntington's disease Pub Date : 2025-03-28 DOI: 10.1177/18796397251331436
Wenzhen Duan, Yuan Zhou, Hongshuai Liu
{"title":"The glymphatic system in Huntington's disease.","authors":"Wenzhen Duan, Yuan Zhou, Hongshuai Liu","doi":"10.1177/18796397251331436","DOIUrl":"https://doi.org/10.1177/18796397251331436","url":null,"abstract":"<p><p>The glymphatic system, a macroscopic waste clearance network in the brain, plays a vital role in maintaining neuronal health and brain homeostasis. Functionally analogous to the lymphatic system in other organs, the term \"glymphatic\" combines \"glial\" and \"lymphatic.\" This system facilitates the exchange of cerebrospinal fluid (CSF) and interstitial fluid (ISF) in the parenchyma, aiding in the removal of soluble proteins and metabolites while distributing essential nutrients and signaling molecules. Its functionality is closely tied to aquaporin 4 (AQP4) water channels, located primarily on astrocytic endfeet, which mediate water movement between the CSF and ISF. Proper glymphatic function relies on the cellular distribution of AQP4 channels and its astroglial endfeet polarization. Emerging evidence links glymphatic dysfunction to several neurodegenerative disorders, including Huntington's disease (HD). Understanding the role of the glymphatic system in HD pathogenesis could provide novel insights into disease pathogenesis and new therapeutic approaches. This review examines the connection between glymphatic dysfunction and HD, highlighting future research directions and therapeutic advancement for HD. It explores pharmacological interventions and lifestyle modifications aimed at optimizing glymphatic function to improve HD management.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251331436"},"PeriodicalIF":2.1,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730393","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
Through their eyes: A retrospective mixed-methods study on the experiences and support needs of children growing up with a parent with Huntington's disease. 通过他们的眼睛:对父母患有亨廷顿舞蹈病的儿童成长经历和支持需求的回顾性混合方法研究。
IF 2.1
Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2024-12-19 DOI: 10.1177/18796397241304333
Maud Mj Daemen, Annelien A Duits, Lucienne B van der Meer, Ruben L Andriessen, Ruth B Veenhuizen, Renske Wassenberg, Tanja Peeters, Lia de Jager, Mayke Oosterloo
{"title":"Through their eyes: A retrospective mixed-methods study on the experiences and support needs of children growing up with a parent with Huntington's disease.","authors":"Maud Mj Daemen, Annelien A Duits, Lucienne B van der Meer, Ruben L Andriessen, Ruth B Veenhuizen, Renske Wassenberg, Tanja Peeters, Lia de Jager, Mayke Oosterloo","doi":"10.1177/18796397241304333","DOIUrl":"10.1177/18796397241304333","url":null,"abstract":"<p><p>BackgroundGrowing up with a parent with Huntington's disease (HD) profoundly impacts children. However, this impact and children's needs are often misunderstood, even by professional services. Even when resources are available, children often feel that their needs are unmet, raising concerns about the adequacy of available guidance and support.ObjectiveThis study aims to offer an in-depth understanding of the multifaceted impact of growing up with a parent with HD, examining the needs for professional guidance on emotional and social aspects, and identifying specific areas where support can be improved to better aid them.MethodsThis retrospective study utilized an exploratory sequential mixed methods design, combining qualitative focus groups (<i>n </i>= 13) and a quantitative survey (<i>n </i>= 23). Qualitative data were analyzed using an inductive thematic analysis with a descriptive phenomenological approach. Quantitative data were analyzed using descriptive statistics.ResultsThe impact of HD on children extends across various domains, affecting self-development, social interactions, and family dynamics. Support received at home varied, with limited access to professional help. Support needs primarily revolved around emotional support and access to comprehensive information. Key support providers, such as parents, peers, mentors, healthcare providers and coaches with expertise in HD, play crucial roles in addressing these needs.ConclusionsThe study underscores challenges faced by children in HD families. By centering our efforts on the emotional well-being of these children, offering tailored information, involving their social network, providing community-based support, and strengthening parental support systems, we can improve the support required by children in these families.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"93-102"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458145","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
Economic burden of Huntington's disease: A systematic review. 亨廷顿舞蹈病的经济负担:一项系统综述。
IF 2.1
Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2025-02-10 DOI: 10.1177/18796397251319209
Pooja Gokhale, Lorenzo Villa Zapata
{"title":"Economic burden of Huntington's disease: A systematic review.","authors":"Pooja Gokhale, Lorenzo Villa Zapata","doi":"10.1177/18796397251319209","DOIUrl":"10.1177/18796397251319209","url":null,"abstract":"<p><p>BackgroundHuntington's disease (HD) is an autosomal dominant neurodegenerative disease, characterized by progressive motor, cognitive, and psychiatric symptoms. The disease poses a significant social and economic burden.ObjectiveThis systematic review aims to characterize the global economic burden by analyzing the direct, indirect, and total costs associated with HD.MethodsA comprehensive literature search was conducted across PubMed/MEDLINE, Web of Science, and Cochrane Library from inception to June 2024. The titles and abstracts were screened independently by two reviewers and full-text, English-language articles assessing direct, indirect, and/or total costs of HD were included. The costs were converted to annual costs in 2024 United States Dollars (USD).ResultsOut of the initial 608 de-duplicated articles, 19 full-text articles were included. The articles spanned 44 years, from 1980 to 2024. The studies covered a total of 15 countries. Annual costs in 2024 USD ranged significantly by region: Americas ($2542-$90,515), Europe ($40,000-$215,020), Asia ($1915-$7132), and Oceania ($3678-$8721). The highest costs were reported in Norway ($171,842) and the UK ($215,020), while Asian countries reported substantially lower costs (China: $6469; South Korea: $6305; Taiwan: $1915-$7132).ConclusionsThe global economic burden of HD varies substantially across regions, influenced by prevalence rates, healthcare systems, and reporting methodologies. Study limitations include heterogeneous cost reporting methods, potential underestimation in cost conversions, and lack of disease severity stratification. Standardizing cost-of-illness study methodologies and developing specific quality assessment tools would enhance cross-study comparability and improve resource allocation globally.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"30-42"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458217","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
Upcoming meetings related to Huntington's disease. 即将召开的会议与亨廷顿舞蹈症有关。
IF 2.1
Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2025-02-27 DOI: 10.1177/18796397251323357
{"title":"Upcoming meetings related to Huntington's disease.","authors":"","doi":"10.1177/18796397251323357","DOIUrl":"10.1177/18796397251323357","url":null,"abstract":"","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"109"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515567","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
Antidopaminergic medications in Huntington's disease. 抗多巴胺能药物治疗亨廷顿氏病
IF 2.1
Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2025-01-12 DOI: 10.1177/18796397241304312
Andrew M Tan, Michal Geva, Y Paul Goldberg, Henk Schuring, Bernd-Jan Sanson, Anne Rosser, Lynn Raymond, Ralf Reilmann, Michael R Hayden, Karen Anderson
{"title":"Antidopaminergic medications in Huntington's disease.","authors":"Andrew M Tan, Michal Geva, Y Paul Goldberg, Henk Schuring, Bernd-Jan Sanson, Anne Rosser, Lynn Raymond, Ralf Reilmann, Michael R Hayden, Karen Anderson","doi":"10.1177/18796397241304312","DOIUrl":"10.1177/18796397241304312","url":null,"abstract":"<p><p>Huntington's disease (HD) is a progressive neurodegenerative disorder marked by motor, cognitive, and behavioral impairments. Antidopaminergic medications (ADMs), such as VMAT2 inhibitors and antipsychotics, are commonly used to manage HD motor disturbances and behavioral disorders. For patients and caregivers, ADMs are an important tool for managing symptoms that negatively affect daily life. However, the impact of ADM use in HD is not firmly understood due to a lack of robust, systematic studies that assessed their overall effect on HD disease. A mounting body of evidence suggests these medications may be associated with worse clinical measures of cognitive function and functional impairment. While regulatory guidelines highlight adverse effects like sedation, cognitive dysfunction, and extrapyramidal symptoms, it is unclear whether ADMs directly impact disease progression or if the side effects mimic or exacerbate measures of HD symptoms in clinical trials. Given ADM effects on the central nervous system and biological uncertainty within HD outcomes, clinical trial designs should recognize the impact of ADMs on key outcomes, as measured by acceptable scales including Total Functional Capacity, Stoop Word Reading, Symbol Digit Modality Test, and the composite Unified Huntington's Disease Rating Scale. The development of novel HD interventions requires consideration of concomitant ADM use that may influence measures of disease presentation. In this review, we highlight the role of ADMs in HD management, their symptomatic benefits and potential risks, especially with high dose associated side effects, interactions with CYP2D6 inhibitors, and the individualized need for careful dose monitoring for clinical care and trial design.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"16-29"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458285","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
Absence of hippocampal pathology persists in the Q175DN mouse model of Huntington's disease despite elevated HTT aggregation. 尽管HTT聚集升高,但在亨廷顿病Q175DN小鼠模型中,海马病理学的缺失仍然存在。
IF 2.1
Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2025-02-03 DOI: 10.1177/18796397251316762
Melissa A Solem, Ross G Pelzel, Nicholas B Rozema, Taylor G Brown, Emma Reid, Rachel H Mansky, Rocio Gomez-Pastor
{"title":"Absence of hippocampal pathology persists in the Q175DN mouse model of Huntington's disease despite elevated HTT aggregation.","authors":"Melissa A Solem, Ross G Pelzel, Nicholas B Rozema, Taylor G Brown, Emma Reid, Rachel H Mansky, Rocio Gomez-Pastor","doi":"10.1177/18796397251316762","DOIUrl":"10.1177/18796397251316762","url":null,"abstract":"<p><p>BackgroundHuntington's disease (HD) is a neurodegenerative disorder causing motor, cognitive, and psychiatric impairments, with the striatum being the most affected brain region. However, the role of other regions, such as the hippocampus, in HD remains less understood.ObjectiveHere, we study the comparative impact of enhanced mHTT aggregation and neuropathology in the striatum and hippocampus of two HD mouse models.MethodsWe utilized the zQ175 as a control HD mouse model and the Q175DN mice lacking the PGK-Neomycin cassette generated in house. We performed a comparative characterization of the neuropathology between zQ175 and Q175DN mice in the striatum and the hippocampus by assessing HTT aggregation, neuronal and glial pathology, chaperone expression, and synaptic density.ResultsWe showed that Q175DN mice presented enhanced mHTT aggregation in both striatum and hippocampus compared to zQ175. Striatal neurons showed a greater susceptibility to enhanced accumulation of mHTT in Q175DN. On the contrary, no signs of hippocampal pathology were found in zQ175 and absence of hippocampal pathology persisted in Q175DN mice despite higher levels of mHTT. In addition, Q175DN hippocampus presented increased synaptic density, decreased Iba1<sup>+</sup> microglia density and enhanced HSF1 levels in specific subregions of the hippocampus compared to zQ175.ConclusionsQ175DN mice are a valuable tool to understand the fundamental susceptibility differences to mHTT toxicity between striatal neurons and other neuronal subtypes. Furthermore, our findings also suggest that cognitive deficits observed in HD animals might arise from either striatum dysfunction or other regions involved in cognitive processes but not from hippocampal degeneration.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"59-84"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458293","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
Frequency of depression in Huntington's disease: A systematic review and meta-analysis. 亨廷顿舞蹈病中抑郁的频率:系统回顾和荟萃分析。
IF 2.1
Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2024-12-05 DOI: 10.1177/18796397241301774
Shayan Abdollah Zadegan, Frank Ramirez, Jung Woo Park, Natalia Pessoa Rocha, Erin Furr Stimming, Antonio L Teixeira
{"title":"Frequency of depression in Huntington's disease: A systematic review and meta-analysis.","authors":"Shayan Abdollah Zadegan, Frank Ramirez, Jung Woo Park, Natalia Pessoa Rocha, Erin Furr Stimming, Antonio L Teixeira","doi":"10.1177/18796397241301774","DOIUrl":"10.1177/18796397241301774","url":null,"abstract":"<p><p>BackgroundHuntington's disease (HD) is a hereditary neurodegenerative disease characterized by a combination of motor, cognitive, and mental health issues, with depression being the most common. Despite its importance, the relationship between depression and disease progression is still debatable.ObjectiveThe primary objective of this study was to examine the frequency of depression across different disease stages in individuals with HD. We also explored the associations between depression and other HD-related factors.MethodsThis systematic review comprehensively searched MEDLINE, APA PsycINFO, and Embase databases for studies on depression in individuals with HD. Pooled depression frequencies were calculated for premanifest and manifest HD. Depression was analyzed based on HD functional stages and diagnostic tools, alongside reviewing its association with various HD factors.ResultsWe assessed 6523 records and included 104 studies. Our meta-analyses revealed that the overall frequency of depression was higher in manifest HD compared to premanifest HD (0.38 vs. 0.23). However, the progression of depression did not follow a consistent pattern, with peaks occurring in earlier rather than later stages. Additionally, the frequency of depression was lower in studies using diagnostic criteria compared to those using clinical scales (0.25 vs. 0.42).ConclusionsOur findings showed that the rate of depression is high in HD and varies depending on the disease stage and the criteria used. This emphasizes the necessity for tailored and unified diagnostic criteria for depression in HD.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"43-58"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458213","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
Lack of Evidence for Kynurenine Pathway Dysfunction in Huntington's Disease: CSF and Plasma Analyses from the HDClarity Study. 缺乏亨廷顿舞蹈病犬尿氨酸途径功能障碍的证据:来自HDClarity研究的CSF和血浆分析
IF 2.1
Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2024-12-10 DOI: 10.1177/18796397241301761
Vinod Khetarpal, Todd Herbst, Celia Dominguez, Ignacio Munoz-Sanjuan, Cristina Sampaio, Bryan Marks, Dennis L Miller, James Farnham, Aaron Ledvina, Hannah Anglehart, Imran Rehmani, Amber LaFayette, Natasha Spridco, Douglas Langbehn, Edward J Wild, Robert Pacifici
{"title":"Lack of Evidence for Kynurenine Pathway Dysfunction in Huntington's Disease: CSF and Plasma Analyses from the HDClarity Study.","authors":"Vinod Khetarpal, Todd Herbst, Celia Dominguez, Ignacio Munoz-Sanjuan, Cristina Sampaio, Bryan Marks, Dennis L Miller, James Farnham, Aaron Ledvina, Hannah Anglehart, Imran Rehmani, Amber LaFayette, Natasha Spridco, Douglas Langbehn, Edward J Wild, Robert Pacifici","doi":"10.1177/18796397241301761","DOIUrl":"10.1177/18796397241301761","url":null,"abstract":"<p><strong>Background: </strong>Evidence from animal studies and post-mortem studies of brains from people with Huntington's disease (PwHD) has suggested that the kynurenine pathway (KP) may be dysregulated in Huntington's disease (HD).</p><p><strong>Objective: </strong>To determine whether there are differences in KP metabolites in the CSF and plasma of PwHD versus healthy controls enrolled in the HDClarity study.</p><p><strong>Methods: </strong>CSF and plasma samples from 141 PwHD with mild and moderate manifest disease and 75 healthy controls were analyzed for 3-hydroxykynurenine (3-OH-KYN), quinolinic acid, kynurenine, anthranilic acid, kynurenic acid, and tryptophan concentrations using validated high-performance liquid chromatography with tandem mass spectrometry (LC-MS/MS) methods. The primary and secondary endpoints compared metabolite concentrations between groups, and an exploratory analysis (PwHD only) evaluated the association between the metabolite levels and severity of disease.</p><p><strong>Results: </strong>No significant differences in CSF or plasma concentrations of any of the six KP metabolites were observed between PwHD and controls, and there were no strong associations between the concentration of any KP metabolite and disease severity. A principal component analysis of the combined CSF and plasma measures showed a substantial positive correlation among all metabolites except for tryptophan in plasma.</p><p><strong>Conclusions: </strong>We found no evidence to support the hypothesis of dysregulation of KP metabolites in HD based on CSF and plasma metabolite levels. The monitoring of KP metabolites in CSF or plasma is unlikely to serve as a pharmacodynamic biomarker for disease progression or therapeutic intervention in HD.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"85-92"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7617368/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189527","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
Comparative analysis of neurofilament light chain in Huntington's disease like 2 and Huntington's disease. 亨廷顿舞蹈病2型与亨廷顿舞蹈病神经丝轻链的比较分析。
IF 2.1
Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2024-11-27 DOI: 10.1177/18796397241300141
David G Anderson, Aline Ferreira-Correia, Filipe B Rodrigues, Lauren M Byrne, Edward J Wild, Amanda Krause
{"title":"Comparative analysis of neurofilament light chain in Huntington's disease like 2 and Huntington's disease.","authors":"David G Anderson, Aline Ferreira-Correia, Filipe B Rodrigues, Lauren M Byrne, Edward J Wild, Amanda Krause","doi":"10.1177/18796397241300141","DOIUrl":"10.1177/18796397241300141","url":null,"abstract":"<p><p>Huntington's disease-like 2 (HDL2) closely resembles Huntington's disease (HD) in clinical and pathological features. Neurofilament light chain (NfL) is an important biomarker in HD research and holds potential in HDL2. To evaluate NfL's utility in HDL2, a comparative analysis among HDL2 (n = 12), HD (n = 9), and unaffected controls (n = 9) was conducted. Employing a cross-sectional design, NfL levels were assessed in blood plasma. Concentrations were notably elevated in both HD and HDL2 groups compared to controls. HD patients displayed higher NfL levels than HDL2, possibly reflecting disease duration differences. NfL effectively distinguished HDL2 from controls, highlighting its promise as a possible biomarker in HDL2 research.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"103-108"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458211","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
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