Journal of Huntington's disease最新文献_第8页

Efficacy and safety of cholinesterase inhibitors and memantine for cognitive symptoms in patients with Huntington's disease: A systematic review. 胆碱酯酶抑制剂和美金刚治疗亨廷顿病患者认知症状的有效性和安全性：一项系统综述

IF 3.1

Journal of Huntington's disease Pub Date : 2025-11-01 Epub Date: 2025-08-12 DOI: 10.1177/18796397251367689

Catarina Correia Rodrigues, Vanessa Carvalho, Filipa Dourado Sotero, Eoin Mulroy, Leonor Correia Guedes

{"title":"Efficacy and safety of cholinesterase inhibitors and memantine for cognitive symptoms in patients with Huntington's disease: A systematic review.","authors":"Catarina Correia Rodrigues, Vanessa Carvalho, Filipa Dourado Sotero, Eoin Mulroy, Leonor Correia Guedes","doi":"10.1177/18796397251367689","DOIUrl":"10.1177/18796397251367689","url":null,"abstract":"BackgroundHuntington's Disease (HD) is an autosomal dominant neurodegenerative disorder. Clinical features encompass a broad spectrum of movement disorders, psychiatric and cognitive symptoms, often progressing to dementia and imposing a substantial burden on patients and their families. While cholinesterase inhibitors and memantine are often used for symptomatic treatment of Alzheimer's Disease and other dementias, there is currently no approved medication for treating cognitive symptoms in HD.ObjectiveWe aim to review, summarize, and appraise evidence from the literature for the use of cholinesterase inhibitors and memantine in the treatment of cognitive symptoms in patients with HD.MethodsA searched was conducted in PubMed and SCOPUS, from inception until February 2024, for Randomized Clinical Trials (RCTs), open-label, and case-control studies. Quality appraisal was performed using ROBINS-I and ROB2 for non-randomized studies and RCTs, respectively.ResultsFive eligible studies (three RCTs, one extension study, and one retrospective case-control), exploring the use of rivastigmine (n = 3), memantine (n = 1), and donepezil (n = 1) were found. Only two had a follow-up period longer than eight months. Previous cognitive functioning was not specified in three out of five studies. Cognitive measures varied widely, with Unified Huntington's Disease Rating Scale and Mini-Mental State Exam being used more frequently. None of the studies showed a significant improvement in cognitive function. Side effects occurred in up to 50% of patients and were usually considered mild.ConclusionsThere is insufficient evidence in the literature to support the use of cholinesterase inhibitors or memantine for cognitive symptoms in patients with HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"331-339"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144821559","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

Epidemiology and clinical features of Huntington's disease in MENASA region: A systematic review and meta-analysis. MENASA地区亨廷顿舞蹈病的流行病学和临床特征：系统回顾和荟萃分析。

IF 3.1

Journal of Huntington's disease Pub Date : 2025-11-01 Epub Date: 2025-07-03 DOI: 10.1177/18796397251356620

Mehri Salari, Kamran Rezaei, Fatemeh Hojjati Pour, Mercedeh Sepehrnia, Masoud Etemadifar

{"title":"Epidemiology and clinical features of Huntington's disease in MENASA region: A systematic review and meta-analysis.","authors":"Mehri Salari, Kamran Rezaei, Fatemeh Hojjati Pour, Mercedeh Sepehrnia, Masoud Etemadifar","doi":"10.1177/18796397251356620","DOIUrl":"10.1177/18796397251356620","url":null,"abstract":"BackgroundGiven the scarcity of comprehensive data on Huntington's disease in many Asian and African countries, it is more effective to focus on specific regions where there is a significant concentration of available data.ObjectiveThis study decided to evaluate the epidemiology and features of Huntington's disease in countries of the Middle East, North Africa, and South Asia (MENASA) regions.MethodsIn this meta-analysis, the limited maximum likelihood (REML) approach was applied to the estimated point prevalence mentioned in original studies of each MENASA country. Additionally, research on Huntington's disease characteristics in each nation was utilized to give a general picture of the disease's status in those nations.ResultsThe pooled point prevalence estimation of the prevalence studies was 8.64 per 100,000 (95% CI, -0.04-17.33; I2 = 100%). Among 14 cohort and cross-sectional studies on individuals with Huntington's disease in the MENASA region, 5.61% of the patients had juvenile-onset Huntington's disease, and 2.3% had late-onset Huntington's disease. In addition, 68.58%, 17.82%, and 45.17% of the individuals were reported with motor symptoms at the onset, abnormal cognitive assessment scores, and degrees of psychological disturbance, respectively. The mean age at onset was 44.85 years, and the mean number of pathologic CAG repeats was 45.46.ConclusionsNotable differences in the frequency of symptoms of onset and pooled prevalence of HD in the MENASA region probably address a serious lack of sufficient information. The results would help clinicians and governments develop public health strategies, and further research could be conducted on these results.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"319-330"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553753","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

Huntington disease and Beta-blocker drug use. 亨廷顿病和受体阻滞剂药物的使用。

IF 3.1

Journal of Huntington's disease Pub Date : 2025-11-01 Epub Date: 2025-06-27 DOI: 10.1177/18796397251352042

Peter A LeWitt, Bisena Bulica

引用次数: 0

Abstracts of the 1st Biennial Huntington's Disease Clinical Research Congress, October 11-13, 2025, Nashville, TN. 第一届两年一次的亨廷顿舞蹈病临床研究大会，2025年10月11-13日，田纳西州纳什维尔。

IF 3.1

Journal of Huntington's disease Pub Date : 2025-10-01 Epub Date: 2025-10-06 DOI: 10.1177/18796397251371438

引用次数: 0

The role of astrocytes in human Huntington's disease pathology. 星形胶质细胞在人类亨廷顿氏病病理中的作用。

IF 3.1

Journal of Huntington's disease Pub Date : 2025-08-01 Epub Date: 2025-08-07 DOI: 10.1177/18796397251344173

Osama Al-Dalahmah, James E Goldman

{"title":"The role of astrocytes in human Huntington's disease pathology.","authors":"Osama Al-Dalahmah, James E Goldman","doi":"10.1177/18796397251344173","DOIUrl":"https://doi.org/10.1177/18796397251344173","url":null,"abstract":"Huntington's disease (HD) is a neurodegenerative disorder caused by a repeat expansion in the HTT gene. The disease is well known for severe and progressive loss of neurons in the caudate and putamen, although other areas are also involved. Much of the attention on understanding the mechanisms underlying HD has focused on the neurons. The brain also contains large numbers of glial cells, such as astrocytes, oligodendrocytes, and microglia, which also become dysfunctional in HD. Astrocytes are one of the most abundant cell types in the central nervous system and are critical for regulating the brain environment and supporting neurons in many ways. In this review, we discuss the changes in astrocytes during the evolution of HD in the human brain. We detail the key phenotypes of astrocytes in human HD, which encompass reactive astrogliosis, loss of homeostatic function, gain of a neuroprotective function, changes in lipid metabolism, huntingtin protein aggregation, and limited somatic repeat expansion. We briefly discuss the conservation of these phenotypes in mouse models and propose a model of how astrocyte states change in human HD. Finally, we present open questions for astrocyte researchers in the HD field. Together, this review represents a valuable resource for readers interested in astrocytic changes in human HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"14 3","pages":"214-228"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794617","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

Preface by the Editors-in-Chief. 总编辑的序言。

IF 2.7

Journal of Huntington's disease Pub Date : 2025-08-01 Epub Date: 2025-08-07 DOI: 10.1177/18796397251363441

Blair R Leavitt, Leslie M Thompson

引用次数: 0

Preface by the Editors-in-Chief. 总编辑的序言。

IF 3.1

Journal of Huntington's disease Pub Date : 2025-08-01 Epub Date: 2025-08-07 DOI: 10.1177/18796397251363441

Blair R Leavitt, Leslie M Thompson

引用次数: 0

Special issue: Glia and non-neuronal cells in Huntington's disease. 特刊：亨廷顿病中的神经胶质细胞和非神经元细胞。

IF 3.1

Journal of Huntington's disease Pub Date : 2025-08-01 Epub Date: 2025-08-07 DOI: 10.1177/18796397251358289

Mahmoud A Pouladi, Asa Petersen

引用次数: 0

The role of oligodendroglial dysfunction in Huntington's disease. 少突胶质功能障碍在亨廷顿病中的作用。

IF 3.1

Journal of Huntington's disease Pub Date : 2025-08-01 Epub Date: 2025-08-07 DOI: 10.1177/18796397251358017

Xinhui Li, Shihua Li, Xiao-Jiang Li, Huu Phuc Nguyen, Asa Petersen, Mahmoud A Pouladi

{"title":"The role of oligodendroglial dysfunction in Huntington's disease.","authors":"Xinhui Li, Shihua Li, Xiao-Jiang Li, Huu Phuc Nguyen, Asa Petersen, Mahmoud A Pouladi","doi":"10.1177/18796397251358017","DOIUrl":"10.1177/18796397251358017","url":null,"abstract":"Huntington's disease (HD) is a fatal neurodegenerative disorder characterized by progressive motor, cognitive, and psychiatric symptoms. Research efforts to understand and treat the disease have historically focused on neuronal pathology, but growing evidence underscores the critical role of oligodendrocytes in its pathogenesis. This review synthesizes recent findings on oligodendroglial dysfunction in HD, showing that white matter abnormalities arise early in disease progression, often preceding gray matter changes and clinical symptoms. Neuroimaging and postmortem studies reveal significant white matter atrophy, myelin breakdown, and impaired oligodendrocyte maturation in both patients and animal models. The myelination response to environmental factors is also altered in HD, suggesting impaired white matter plasticity in the disease. At the molecular level, mutant huntingtin disrupts oligodendrocyte function through transcriptional dysregulation of myelin genes, epigenetic modifications involving PRC2 and REST, altered lipid metabolism, thiamine pathway dysfunction, and aberrant BDNF signaling. Key oligodendroglial transcriptional regulators such as MYRF and TCF7L2 are compromised in HD, leading to defective myelination and reduced metabolic support for neurons. Recognizing the role of these mechanisms provides potential biomarkers for early detection and therapeutic targets aimed at preserving both neuronal and glial function in HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"14 3","pages":"270-278"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12361682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794618","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

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 3.1

Journal of Huntington's disease Pub Date : 2025-08-01 Epub 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":"10.1177/18796397251330144","url":null,"abstract":"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.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"241-257"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","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