Journal of Huntington's disease最新文献_第3页

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-05-04 DOI: 10.1177/18796397261446165

Shelly Scheepers, Mackenzie W Ferguson, Thulani H Palpagama, Aodán Laighneach, Derek W Morris, Deborah Young, Clinton Turner, Lynette Tippett, Henry J Waldvogel, Richard Lm Faull, Andrea Kwakowsky

{"title":"Development-related gene expression disruption in the human midcingulate cortex in Huntington's disease.","authors":"Shelly Scheepers, Mackenzie W Ferguson, Thulani H Palpagama, Aodán Laighneach, Derek W Morris, Deborah Young, Clinton Turner, Lynette Tippett, Henry J Waldvogel, Richard Lm Faull, Andrea Kwakowsky","doi":"10.1177/18796397261446165","DOIUrl":"10.1177/18796397261446165","url":null,"abstract":"Huntington's disease (HD) patients with anterior cingulate cortex atrophy typically exhibit mood symptomatology. However, the midcingulate cortex's (MCC) role in HD is poorly understood. mRNA sequencing was utilized to examine the MCC transcriptome in HD, and differentially expressed transcripts were validated by NanoString analysis. Transcriptomic analysis of 14 HD patients exhibiting mood, motor, or mixed symptoms revealed differential expression of 223 genes, including several homeo-domain, developmental, and noncoding genes in the MCC. Protein-protein interaction, gene ontology, and cell-type enrichment analyses identified dysregulated pathways in the adult MCC involved in processes linked to embryonic development and organogenesis, epigenetic modification, transcription regulation, neuronal differentiation, and motor system development. Key findings include misexpressed genes associated with limb, muscle and motor neuron development in the motor cohort. These alterations suggest that mutant huntingtin may influence developmental processes via aberrant WNT (Wingless), REST (RE1-silencing transcription factor), and transcription factor signaling, potentially affecting MCC motor function circuitry and neuronal maturation. This study indicates a developmentally associated transcriptional signature in the adult HD MCC that may contribute to altered neuronal function.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"342-360"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147816183","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

Novel monoclonal antibodies against the C-terminal HEAT domain of huntingtin. 针对亨廷顿蛋白c -末端HEAT结构域的新型单克隆抗体。

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-03-05 DOI: 10.1177/18796397261426634

Yang-Nim Park, Rebeka Fanti, Samira Sadeghi, Renu Chandrasekaran, Aled M Edwards, Rachel J Harding, Douglas W Houston

{"title":"Novel monoclonal antibodies against the C-terminal HEAT domain of huntingtin.","authors":"Yang-Nim Park, Rebeka Fanti, Samira Sadeghi, Renu Chandrasekaran, Aled M Edwards, Rachel J Harding, Douglas W Houston","doi":"10.1177/18796397261426634","DOIUrl":"10.1177/18796397261426634","url":null,"abstract":"BackgroundReliable detection of huntingtin (HTT) is essential for understanding Huntington's disease (HD) biology and for evaluating therapeutic strategies. However, high-quality monoclonal antibodies (mAbs) against the HTT C-terminal domain remain limited.ObjectiveWe sought to generate and validate novel monoclonal antibodies targeting the HTT C-terminal HEAT-containing domain to better detect HTT independently of potential effects of polyglutamine length that can impact some N-terminally targeted antibodies.MethodsWe immunized mice with a highly purified, well-characterized recombinant protein corresponding to the HTT C-terminal domain. We generated monoclonal antibody-producing hybridoma cell lines and characterized the antibodies in common immuno-applications using parental and HTT-knockout cell lines, and in patient-derived fibroblasts.ResultsThree novel, independent hybridoma lines producing anti-HTT monoclonal antibodies were derived. Using CRISPR-edited HTT knockout cell lines and in patient-derived cells, we identified one clone, anti-HTT [2F8], that was specific and effective across Western blot, immunofluorescence, and ELISA assays. All antibodies bound full-length HTT irrespective of HAP40 interaction or polyQ length in vitro and in cells and showed no cross-reactivity to the N-terminal HEAT domain.ConclusionsThese C-terminal HTT mAbs are thus valuable additional tools for studying endogenous HTT function in both normal and disease contexts.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"386-398"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147355161","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

Multimodal MRI integrating anti-motion multi-parametric mappings for investigating subcortical nuclei microstructural alterations in Huntington's disease. 结合反运动多参数映射的多模态MRI研究亨廷顿病皮质下核微结构改变。

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-01-08 DOI: 10.1177/18796397251411608

Mengying Zhu, Ming Ye, Zejun Wu, Jianzhong Lin, Fei Wu, Xiao Wang, Haiyang Luo, Yong Zhang, Jianfeng Bao, Shuhui Cai, Congbo Cai

{"title":"Multimodal MRI integrating anti-motion multi-parametric mappings for investigating subcortical nuclei microstructural alterations in Huntington's disease.","authors":"Mengying Zhu, Ming Ye, Zejun Wu, Jianzhong Lin, Fei Wu, Xiao Wang, Haiyang Luo, Yong Zhang, Jianfeng Bao, Shuhui Cai, Congbo Cai","doi":"10.1177/18796397251411608","DOIUrl":"10.1177/18796397251411608","url":null,"abstract":"BackgroundHuntington's disease (HD) is a hereditary neurodegenerative disorder, with pathological changes detectable by MRI before symptom onset. Quantitative MRI (qMRI) provides tissue-specific parameters and holds potential for capturing disease-related biomarkers. However, conventional analysis methods often rely on single-modality imaging or mean features, constraining their ability to capture HD's complex microstructural evolution.PurposeTo assess the feasibility of multi-modal MRI combined with the MOLED sequence in HD patients and explore its value in early disease detection and staging.Methods22 HD patients (14 Pre-HD and 8 M-HD) and 27 healthy controls were enrolled. MOLED-derived T2 and T2* maps, along with structural MRI, were acquired using two 3.0 T scanners to assess inter-scanner consistency. The MOLED sequence incorporates ultrafast acquisition techniques to minimize motion artifacts and improve image quality. Histogram-based features (e.g., variance, skewness, and maximum) and volumes were extracted from eight deep brain regions. Multiple machine learning models were employed for classification analysis.ResultsThe MOLED demonstrated good image consistency and reproducibility across scanners. Significant group differences were observed in the volumes of several basal ganglia regions and in variance-based features across multiple modalities. Machine learning models combining clinical and mapping features achieved the highest classification performance (maximum F1-macro = 0.846, Sensitivity-macro = 0.838).ConclusionMOLED provides stable and complementary quantitative information for multi-modal MRI. Integrating multimodal multi-feature with machine learning enables a more comprehensive depiction of HD-related microstructural heterogeneity and disease progression.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"361-374"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933668","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

Molecular diagnosis of Huntington's disease in Trinidadian families via triplet repeat primed PCR, fragment analysis, and nanopore sequencing. 通过三重重复引物PCR、片段分析和纳米孔测序对特立尼达家族亨廷顿氏病的分子诊断。

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-01-09 DOI: 10.1177/18796397251407656

Shavana Nicole Rajkumar, Chris Gyan, Damion Basdeo, Nemal Gokool, Arianne Brown Jordan, Soren Nicholls, Vijay Pradeep, Rajini Rani Haraksingh

{"title":"Molecular diagnosis of Huntington's disease in Trinidadian families via triplet repeat primed PCR, fragment analysis, and nanopore sequencing.","authors":"Shavana Nicole Rajkumar, Chris Gyan, Damion Basdeo, Nemal Gokool, Arianne Brown Jordan, Soren Nicholls, Vijay Pradeep, Rajini Rani Haraksingh","doi":"10.1177/18796397251407656","DOIUrl":"10.1177/18796397251407656","url":null,"abstract":"BackgroundHuntington's disease (HD) is a neurodegenerative disorder caused by CAG expansions in the Huntingtin (HTT) gene. Due to its non-specific and variable phenotype, diagnosis requires clinical assessments and genetic testing. In the Caribbean, the genetic etiology of HD is underexplored due to the unavailability of genetic testing.ObjectiveWe investigated whether 32 participants from four multigenerational families from Trinidad and Tobago (T&T) presenting with Huntington-like symptoms carried HTT CAG expansions, and whether CAG length was related to decreasing age of onset with each generation.MethodsParticipants were genotyped using triplet repeat primed PCR followed by previously-established fragment analysis and a nanopore sequencing based method with a custom bioinformatics workflow.ResultsAll symptomatic participants carried HTT CAG expansions (42-57 CAGs), confirming HD. Among participants aged 20-65 years (n = 24), clinical and genetic diagnoses were concordant for 22 participants (13 symptomatic with 42-57 CAGs, and nine asymptomatic with 13-27 CAGs). Two asymptomatic participants aged 22 and 43 years carried 46-47 and 37-39 CAGs, respectively. Among eight participants <18 years, one symptomatic 16-year-old carried 49-50 CAGs, and seven are currently asymptomatic (three with 50-52 CAGs, and four with 14-17 CAGs). In three families, decreasing age of onset and increasing CAG length were observed in each successive generation. Methods were highly correlated (R2 = 0.998).ConclusionsWe demonstrated the application of nanopore sequencing with a custom bioinformatics workflow to estimate the size of HTT CAG repeats. This is the first genetic report of HD in T&T, among limited records in the Caribbean.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"375-385"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145944545","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

Alleviation of cerebellar impairment, cognitive decline, and depression by a chlorzoxazone-folic acid combination in a Huntington's disease transgenic mouse model. 在亨廷顿氏病转基因小鼠模型中，氯唑恶酮-叶酸组合减轻小脑损伤、认知能力下降和抑郁。

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-02-25 DOI: 10.1177/18796397261426432

Ksenia S Marinina, Daria S Malkova, Ilya B Bezprozvanny, Polina A Egorova

{"title":"Alleviation of cerebellar impairment, cognitive decline, and depression by a chlorzoxazone-folic acid combination in a Huntington's disease transgenic mouse model.","authors":"Ksenia S Marinina, Daria S Malkova, Ilya B Bezprozvanny, Polina A Egorova","doi":"10.1177/18796397261426432","DOIUrl":"10.1177/18796397261426432","url":null,"abstract":"Huntington's disease (HD) is a hereditary neurodegenerative condition, passed down in an autosomal dominant manner, characterized by the gradual decline of motor functions, such as chorea, along with psychiatric symptoms and cognitive deterioration. In HD, the striatum is the main area impacted, although cerebellar atrophy has also been observed independently of striatal degeneration. Consequently, HD patients may exhibit symptoms consistent with cerebellar cognitive affective syndrome (CCAS) due to cerebellar involvement. CCAS manifestations have been noted in various rodent models of motor dysfunctions linked to cerebellar atrophy. Previous research has identified anxiety, memory deficits, and depressive-like behavior in the YAC128 transgenic murine model of HD. This investigation examines the effects of prolonged administration of the small-conductance calcium-activated potassium channel (SK channel) positive modulator chlorzoxazone (CHZ), both alone and in combination with folic acid (FA), on cerebellar Purkinje cell (PC) electrophysiology and morphology, along with locomotor and memory decline and emotional state changes in YAC128 mice. The findings indicate that both CHZ alone and the mixture of CHZ and FA similarly ameliorated cerebellar-specific deficits, encompassing the precision of PC electrophysiological activity and beam walk performance in YAC128 mice. However, solely the mixture of CHZ and FA significantly alleviated depressive-like symptoms and improved recognition memory. These findings imply that a therapeutic approach addressing both motor and cognitive-affective deficits is essential for the holistic management of movement disorders associated with cerebellar atrophy, including HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"421-438"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147290090","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 clinimetric evaluation of the problem behaviors assessment short form (PBA-s) within the context of the Huntington's disease integrated staging system (HD-ISS). 在亨廷顿氏病综合分期系统（HD-ISS）的背景下，问题行为评估简表（PBA-s）的临床评价。

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-03-05 DOI: 10.1177/18796397261423978

Docia L Demmin, Matthew W Roché, Jatin G Vaidya, Douglas R Langbehn, Rebecca Lm Fuller, Sarah Z Weingast, Cristina Sampaio, Glenn T Stebbins

{"title":"A clinimetric evaluation of the problem behaviors assessment short form (PBA-s) within the context of the Huntington's disease integrated staging system (HD-ISS).","authors":"Docia L Demmin, Matthew W Roché, Jatin G Vaidya, Douglas R Langbehn, Rebecca Lm Fuller, Sarah Z Weingast, Cristina Sampaio, Glenn T Stebbins","doi":"10.1177/18796397261423978","DOIUrl":"10.1177/18796397261423978","url":null,"abstract":"Background/ObjectiveThis study extends prior clinimetric evaluations by examining the factor structure, internal consistency, and distributional properties of the Problem Behaviors Assessment - Short Form (PBA-s) in a large sample of people with Huntington's disease (pwHD) at various stages of progression using the Huntington's Disease Integrated Staging System (HD-ISS) framework.MethodsBaseline PBA-s item total scores were analyzed from 14,371 Enroll-HD participants. Using HD-ISS criteria, participants were categorized as Stage 0/1 (n = 3262; 23%), Stage 2 (n = 1722; 12%), or Stage 3 (n = 9387; 65%).ResultsMissing responses were low across items and stages. Item total score distributions demonstrated significant skew in Stages 0/1 and 2. Within Stage 3, skewness was less prevalent but still present in most distributions. In all groups, the PBA-s demonstrated moderate internal consistency, though five items exhibited weak item-total correlations. Resultant factor structures differed from those previously reported and varied by HD-ISS stage. In Stages 0/1 and 2, a three-factor model representing internalizing, externalizing, and cognitive control problems accounted for 39-42% of the total variance. In Stage 3, a five-factor solution explained 56% of the overall variance and consisted of internalizing, externalizing, cognitive control problems, suicidality, and cognitive dysfunction.ConclusionsWhile the PBA-s demonstrates adequate internal consistency, our results revealed high rates of non-endorsement (i.e., item total scores = 0) and a variable factor structure with disease progression. Thus, the PBA-s may not distinguish mild changes in behavioral symptoms that might occur in early HD-ISS stages of disease.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"468-475"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147365472","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 sparse evidence-base for self-injurious behavior in Huntington's disease: A call to action. 亨廷顿舞蹈症中自残行为的稀少证据基础：行动呼吁。

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-05-22 DOI: 10.1177/18796397261453471

Inga Stewart, Fiona Stone, Esther Gathii

引用次数: 0

Assessing the efficacy of dextromethorphan/quinidine in treating irritability in Huntington's disease. 评价右美沙芬/奎尼丁治疗亨廷顿舞蹈病患者易激惹的疗效。

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-01-07 DOI: 10.1177/18796397251411112

Shayan A Zadegan, Olivia Calderon, Nicholas Karagas, Jorge Patino, Deepa Dongarwar, Brittany Duncan, Antonio L Teixeira, Natalia P Rocha, Erin Furr Stimming

{"title":"Assessing the efficacy of dextromethorphan/quinidine in treating irritability in Huntington's disease.","authors":"Shayan A Zadegan, Olivia Calderon, Nicholas Karagas, Jorge Patino, Deepa Dongarwar, Brittany Duncan, Antonio L Teixeira, Natalia P Rocha, Erin Furr Stimming","doi":"10.1177/18796397251411112","DOIUrl":"10.1177/18796397251411112","url":null,"abstract":"BackgroundHuntington's disease (HD) is a neurodegenerative disorder caused characterized by motor, cognitive, and psychiatric/behavioral impairments. Among these symptoms, irritability is particularly burdensome due to its frequency and significant impact on the daily lives of both patients and caregivers. Currently, no FDA-approved medication specifically targets this symptom.ObjectiveTo assess the efficacy of dextromethorphan/quinidine (DM/Q) 20/10 mg (NUEDEXTA®) in managing irritability in HD.MethodsDouble-blind, placebo-controlled, randomized, crossover clinical trial. Participants underwent a 13-week study: six weeks of DM/Q treatment, one-week washout, and six weeks of placebo. The DM/Q 20/10 mg regimen started with a once-daily dose, increased to twice daily after the first week, and tapered back to once daily in the sixth week. Participants were evaluated during three in-person visits: at baseline and at the end of each treatment phase. Assessments included motor and cognitive exams, the Irritability Scale, and the Problem Behavior Assessment-short version (PBA-s) (ClinicalTrials.gov NCT03854019).ResultsTwenty participants were enrolled, with 18 completing the study (mean age = 43.94 ± 10.70 years, 11 females and 7 males). Both DM/Q and placebo reduced mean Irritability Scale scores (32% and 27.5%, respectively) and the irritability subscale of the PBA-s (42% and 33%, respectively), with no statistically significant differences between groups. Additionally, DM/Q showed no significant advantage over placebo in motor, behavioral, or cognitive outcomes.ConclusionDM/Q did not demonstrate significant benefits in managing irritability compared to placebo. Further research with larger sample sizes and alternative therapeutic strategies is needed to effectively address this symptom in HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"332-341"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145917739","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

Towards AI-driven prediction of HTT CAG size in super-expanded human spiny projection neurons from Huntington disease donors. 人工智能驱动预测来自亨廷顿病供体的超扩展人类脊髓投射神经元HTT CAG大小

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-04-20 DOI: 10.1177/18796397261443137

Simone Maestri, Davide Scalzo, Martina Zobel, Dario Besusso, Elena Cattaneo

{"title":"Towards AI-driven prediction of HTT CAG size in super-expanded human spiny projection neurons from Huntington disease donors.","authors":"Simone Maestri, Davide Scalzo, Martina Zobel, Dario Besusso, Elena Cattaneo","doi":"10.1177/18796397261443137","DOIUrl":"10.1177/18796397261443137","url":null,"abstract":"Somatic instability (SI) of the CAG tract in HTT is a major driver of neurodegeneration of Spiny Projection Neurons (SPNs), the primary neuronal subtype affected in Huntington's disease (HD). SPNs can accumulate hundreds of CAG repeats during a patient's lifetime, and once the expansion exceeds ∼150 CAGs, they acquire distinct, cell-autonomous transcriptional alterations that ultimately contribute to degeneration. Here, we developed the \"HD-Phase-Model\", a mathematical framework designed to identify \"super-expanded\" SPNs without repeat sizing, by leveraging the only available single-nucleus HD post-mortem dataset that provides both transcriptional profile and matched HTT CAG sizes. After validating model performance on the test data, we applied it to independent single-nucleus datasets lacking CAG sizing information and across multiple brain regions. In all cases, the model consistently detected SPNs populations with convergent transcriptional dysregulation signatures indicative of extreme CAG expansion.Importantly, although the model was trained on caudate SPNs, we observed highly similar dysregulation patterns in putamen and accumbens, while no evidence of super-expansion was found in SPNs from Alzheimer's and Parkinson's disease donors.Together, these findings demonstrate that transcriptional profiles alone can serve as predictors of HTT CAG size, enabling systematic identification of super-expanded SPNs and providing insights into HD-specific neurodegenerative mechanisms.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"408-420"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13478745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147729177","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

Professional and service users' views of eating problems in Huntington's disease. 专业人士和服务用户对亨廷顿病饮食问题的看法。

IF 2.7

Journal of Huntington's disease Pub Date : 2026-08-01 Epub Date: 2026-03-23 DOI: 10.1177/18796397261435111

Callum Schofield, Marie Reid, Ivana Markova, David Smith

{"title":"Professional and service users' views of eating problems in Huntington's disease.","authors":"Callum Schofield, Marie Reid, Ivana Markova, David Smith","doi":"10.1177/18796397261435111","DOIUrl":"10.1177/18796397261435111","url":null,"abstract":"BackgroundWeight loss and eating difficulties are common in Huntington's disease (HD), but professionals' perspectives remain underexplored.ObjectiveTo investigate professionals and service users' perspectives on weight loss and eating difficulties, and explore how these issues are prioritized, managed, and experienced.MethodsSemi-structured interviews (n = 19; 10 professionals, 9 service users) in the UK. Reflexive thematic analysis identified key themes regarding the causes, management, and impact of eating problems in HD.ResultsSix themes emerged: (1) Common tactics for weight gain and their limitations, (2) Variability in professional knowledge and access to care, (3) Cognitive and psychopathological contributors to weight loss, (4) Physical and practical barriers to eating, (5) Social and emotional impacts of feeding difficulties, and (6) Perceptions of weight loss and disease progression. Within these themes we found that, amongst other findings, high-energy diets and supplements are widely used but often poorly tolerated long-term. Access to specialist care is inconsistent, leading to a \"geographical lottery\". Cognitive and psychological symptoms, including apathy and executive dysfunction, significantly affect eating behaviors. Physical symptoms such as chorea and dysphagia further complicate intake. Social withdrawal due to embarrassment is common. Weight loss is often under-recognized or under-prioritized by patients.ConclusionsCauses of weight loss are complex and need multidisciplinary holistic management, which is not always available. Management of complex psychosocial factors is as important as managing physical symptoms. Proactive, personalized interventions can improve both longevity and quality of life for people with HD.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"476-486"},"PeriodicalIF":2.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147503650","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