Amyotrophic lateral sclerosis & frontotemporal degeneration最新文献

{"title":"Theory of mind impairment related to <i>C9orf72</i> repeat expansion in amyotrophic lateral sclerosis: a case-control study.","authors":"Francesca Palumbo, Barbara Iazzolino, Antonio Canosa, Umberto Manera, Rosario Vasta, Maurizio Grassano, Enrico Matteoni, Sara Cabras, Alessandra Maccabeo, Giorgio Pellegrino, Filippo Giai Merlera, Anastasia Dei Giudici, Stefano Callegaro, Luisa Balz, Cristina Moglia, Adriano Chiò, Andrea Calvo, Dorothée Lulé","doi":"10.1080/21678421.2026.2694499","DOIUrl":"10.1080/21678421.2026.2694499","url":null,"abstract":"<p><p><i>Objective</i>: To investigate cognitive and affective theory of mind (ToM) in amyotrophic lateral sclerosis (ALS) patients carrying the <i>C9orf72</i> repeat expansion (C9orf72+), compared with matched non-mutated (C9orf72-) ALS patients and healthy controls (HCs). <i>Methods</i>: We assessed 34 C9orf72+ ALS patients, 34 C9orf72- ALS patients matched for sex, age, education, and cognitive category, and 34 HC matched for sex, age, and education. Participants underwent neuropsychological evaluation, including the Story-Based Empathy Task (SET), assessing cognitive ToM (Intention Attribution, IA), affective ToM (Emotion Attribution, EA), and Causal Inference (CI). <i>Results</i>: C9orf72+ patients showed lower SET-global score than C9orf72- patients (<i>p</i> <b>= </b>0.028). Compared with HC, C9orf72+ showed lower score in SET-global score and all SET subtests (all <i>p</i> < 0.05). C9orf72+ cognitively normal differed from HC in SET-global score, IA, and EA (all <i>p</i> < 0.038), whereas C9orf72- cognitively normal did not differ from HC. Multiple linear regression analyses indicated that ALS-specific cognitive domains only explained ∼25% of ToM variance, with no association with demographic, clinical, or behavioral variables. Cluster analysis identified three cognitive profiles based on SET performance, with the most impaired cluster showing the highest proportion of C9orf72+ patients (68%). <i>Conclusion: C9orf72</i>-mutated ALS patients showed more pronounced impairment in cognitive and affective ToM than non-mutated ALS patients, independent of demographic, clinical, and cognitive features. These findings, although requiring confirmation on larger samples, suggest that ToM dysfunction may represent a sensitive marker of cognitive involvement in ALS-<i>C9orf72</i>-associated disease, particularly in its affective component.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-11"},"PeriodicalIF":2.8,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148809699","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}

{"title":"A de novo FUS frameshift variant (p.Gly501Valfs*30) presenting with tremor and prominent extrapyramidal features in young-onset motor neuron disease: a case report.","authors":"Dongchao Shen, Jianfeng Ding, Feifei Zhai, Jiayu Shi, Mingsheng Liu, Qing Liu, Liying Cui","doi":"10.1080/21678421.2026.2721279","DOIUrl":"https://doi.org/10.1080/21678421.2026.2721279","url":null,"abstract":"<p><p>Fused in sarcoma (<i>FUS</i>) mutations are a recognized cause of juvenile-onset amyotrophic lateral sclerosis (ALS), typically associated with early age at onset and rapid disease progression. Here we report a 32-year-old Chinese man who presented with bilateral hand tremor as the initial symptom, followed by progressive dysarthria, bradykinesia, and multi-segment upper and lower motor neuron involvement. Whole-exome sequencing identified a de novo heterozygous <i>FUS</i> frameshift (p.Gly501Valfs*30), confirmed absent in both parents. Electromyography revealed predominantly chronic neurogenic changes. At approximately 2.5 years from symptom onset, the patient remains ambulatory with a walking frame, with a notably milder course than the previously reported frameshift at the same Gly501 codon. This case expands the phenotypic spectrum of <i>FUS</i>-associated motor neuron disease and highlights tremor and extrapyramidal features as potential early manifestations in adult patients.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-3"},"PeriodicalIF":2.8,"publicationDate":"2026-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148809677","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}

{"title":"Multidisciplinary clinic attendance and patterns of care in the U.S. National ALS Registry, 2013-2023.","authors":"D Kevin Horton, Jaime Raymond, Theodore Larson, Stephen A Goutman, Paul Mehta","doi":"10.1080/21678421.2026.2717968","DOIUrl":"10.1080/21678421.2026.2717968","url":null,"abstract":"<p><strong>Background: </strong>Amyotrophic lateral sclerosis (ALS) multidisciplinary clinics (MDCs) are the standard model of care, but national-level data on utilization and outcomes in the United States are lacking.</p><p><strong>Objective: </strong>To compare baseline characteristics and symptoms, clinical interventions and specialized care processes, and healthcare utilization among U.S. National ALS Registry (Registry) participants by MDC attendance.</p><p><strong>Methods: </strong>Registry data from 2013 to 2023 were analyzed for participants completing demographic and clinical surveys, stratified by MDC attendance (attendance vs. no attendance by survey completion).</p><p><strong>Results: </strong>Among 4764 participants, 77.0% reported attending an MDC. Baseline characteristics were similar between groups, including sex, age at diagnosis, and Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) scores. MDC attendees reported lower prevalence of dysphagia (23.6% vs. 27.5%, <i>p</i> = 0.007) and bowel/bladder issues (10.7% vs. 14.3%, <i>p</i> = 0.001). Attendees were more likely to use evidence-based interventions, including wheelchairs/scooters, noninvasive ventilation, percutaneous endoscopic gastrostomy (PEG), communication devices, and ALS disease-modifying therapies, specifically riluzole (72.7% vs. 48.1%) and edaravone (10.5% vs. 2.6%) (all <i>p</i> < 0.001). MDC attendees also demonstrated higher rates of specialized care processes, including advance directive completion, genetic testing, and prior research participation (all <i>p</i> < 0.001). For healthcare utilization, MDC attendance was associated with fewer emergency department visits among those with any use (RR 0.90, 95% confidence interval (CI) 0.82-0.99) and shorter hospital stays (<i>β</i> = -2.67 days, 95% CI -4.56 to -0.78).</p><p><strong>Conclusion: </strong>MDC attendance was associated with greater uptake of evidence-based interventions, higher rates of specialized care processes, and reduced healthcare utilization intensity, consistent with previously reported multidisciplinary ALS care outcomes.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-9"},"PeriodicalIF":2.8,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13574221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802317","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}

{"title":"The EQ-5D-5L in amyotrophic lateral sclerosis: an international longitudinal exploration as part of ALS-CarE.","authors":"Robert McFarlane, Johanna Anneser, Ammar Al-Chalabi, Adriano Chiò, Christopher J Mcdermott, Thomas Meyer, Gabriele Mora, Walter Sermeus, Thoecharis Stavroulakis, Paul Tappenden, Leonard H Van Den Berg, Andrea S Winkler, Miriam Galvin, Orla Hardiman","doi":"10.1080/21678421.2026.2715921","DOIUrl":"10.1080/21678421.2026.2715921","url":null,"abstract":"<p><strong>Background: </strong>The EuroQol 5-Dimension 5-Level questionnaire (EQ-5D-5L) is widely used in health outcomes research, but its longitudinal performance in amyotrophic lateral sclerosis (ALS), particularly across international cohorts, remains poorly characterized. This study examined whether the EQ-5D-5L captures clinically meaningful change over time in ALS and how national value sets influence interpretation of that change.</p><p><strong>Methods: </strong>EQ-5D-5L data from 296 patients across six European ALS centers in five countries were analyzed over 18.6 months (IQR 17.9-20.8). Baseline and follow-up assessments were compared using the Paretian Classification of Health Change and Health Profile Grids. Country-specific tariffs were applied to identical health-state transitions. Associations between EQ-5D measures and King's stage were assessed.</p><p><strong>Results: </strong>Overall health states worsened over time, although mixed change remained common (31.0%-39.0%), reflecting simultaneous improvement and deterioration across dimensions. Pain/discomfort and anxiety/depression were the only domains showing notable improvement at later follow-up. Mean health-state ranks worsened from 619.65 at baseline to 857.20 at follow-up. However, the apparent magnitude of progression differed substantially according to national tariff selection, with pooled mean utility change ranging from -0.081 under the Dutch tariff to -0.112 under the Italian tariff. Both EQ-5D index and visual analog scale scores correlated with progression according to the King's staging system.</p><p><strong>Conclusions: </strong>The EQ-5D-5L captures plausible longitudinal deterioration in ALS, but interpretation is strongly influenced by valuation context. National tariffs may materially alter the apparent size of quality-of-life change in multinational ALS studies.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-10"},"PeriodicalIF":2.8,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148726797","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}

{"title":"Lessons from a systematic review of family-based studies in ALS.","authors":"Bi-Nan Wang, Rick A A Van Der Spek, Justus D A M Van Nispen Tot Sevenaer, Joke J F A Van Vugt, Floor A Munnik, Mark K Bakker, Michael A Van Es, Leonard H Van Den Berg, Wouter Van Rheenen, Jan H Veldink","doi":"10.1080/21678421.2026.2713969","DOIUrl":"10.1080/21678421.2026.2713969","url":null,"abstract":"<p><p>ALS is genetically heterogeneous, with many causal genes identified through family-based gene-discovery studies. To evaluate this progress, we systematically reviewed these studies and identified unresolved genomic regions across five pedigrees. Reexamination resolved two pedigrees, nominating <i>FUS</i> and <i>SYNE1</i> as the causal genes. The remaining three pedigrees exhibited linkage to four unresolved regions, which we reanalyzed using large-scale genetic datasets. We found no convincing evidence for new ALS-causing variants in these regions. These unresolved regions originated from complex pedigrees-consanguineous, isolated, or containing only a few affected individuals-whereas successful linkage was observed in larger, multigenerational families with ALS. Our findings confirm that family-based methods are robust in typical ALS pedigrees but lack power in small pedigrees with few affected individuals or in phenotypically heterogeneous families. Given these challenges and the rare-variant architecture of ALS, we propose a 'super-pedigree' framework to identify extended families with ALS to discover shared genetic risk factors and help develop gene-based therapies.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-10"},"PeriodicalIF":2.8,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148714711","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}

{"title":"Clinical and genetic characteristics of 536 young-onset amyotrophic lateral sclerosis in China: a single-center retrospective study.","authors":"Dongchao Shen, Xunzhe Yang, Kang Zhang, Shuangwu Liu, Xiaohan Sun, Jinyue Li, Zhengyi Cai, Mingsheng Liu, Xue Zhang, Qing Liu, Liying Cui","doi":"10.1080/21678421.2026.2712723","DOIUrl":"https://doi.org/10.1080/21678421.2026.2712723","url":null,"abstract":"<p><p><i>Objective:</i> Young-onset amyotrophic lateral sclerosis (ALS), defined as symptom onset at or before 45 years, remains poorly characterized in Chinese patients. We aimed to describe its clinical and genetic features and compare them with adult-onset ALS. <i>Methods:</i> We retrospectively analyzed 536 young-onset ALS patients registered at Peking Union Medical College Hospital (2014-2022) alongside 1136 adult-onset patients (onset >45 years). Whole exome sequencing targeting 41 established ALS-related genes was performed in all young-onset patients. Results: Young-onset ALS accounted for 32.0% of the cohort, with a median onset age of 39.5 years (IQR 34.25-44.0). Compared with adult-onset patients, young-onset cases had less bulbar onset (14.2% vs. 19.5%, <i>p</i> = 0.008), more frequent predominant upper motor neuron phenotype (25.9% vs. 15.4%, <i>p</i> < 0.001), higher baseline ALSFRS-R scores (<i>p</i> < 0.001), slower progression (<i>p</i> = 0.001), and longer median survival (36 vs. 30 months, <i>p</i> = 0.009). Familial ALS was more common in the young-onset group (8.4% vs. 3.8%, <i>p</i> < 0.001). Rare variants were identified in 20.0% of young-onset patients across 32 genes; pathogenic or likely pathogenic variants were predominantly in <i>SOD1</i> and <i>FUS</i>. Compared with adult-onset patients, <i>SOD1</i> was proportionally more common in adult-onset disease, whereas <i>FUS</i> variants were markedly enriched among young-onset cases, suggesting age-dependent differences in genetic architecture. <i>Conclusion:</i> Young-onset ALS in China is characterized by a slower clinical course and a distinct genetic profile dominated by <i>SOD1</i> and <i>FUS</i>, with near-absent <i>C9orf72</i> expansions. Routine genetic testing and age-stratified trial design are warranted in this population.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-9"},"PeriodicalIF":2.8,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148708612","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}

{"title":"Issues in the clinical assessment and management of people living with motor neurone disease (MND): a survey of Australian healthcare professionals.","authors":"Ines Semendric, Zachary Munn, Tom Jenkins, Alicia Edwards, Victoria Tull, Vivienne Travlos, Karen Hutchinson, Lillian Krikheli, Nicole Sheers, Lesley-Ann Hall, Phyllis Chua, Nicole Hatch, Peter Allcroft, Barry Werth, Annie Saffrett, Jaclyn Yoong, Laura Cooper, Monique Signorelli, Emily Farrugia, Emma Devenney, Arabelle Douglas, Alicia Gibb, Mandi Macshane, Matthew Gardiner, Annette Collins, Jie Yang, Bernadette Rogerson, David Schultz, Deidre Lim, Fiona Fisher, Helen Herz, Holly Puckering, Ingrid Swain, John Cameron, Laura Donnelly, Leanne Davis, Lilian Anderson, Melissa Acampora, Rachel Heatley, Shana Taubert, Timothy Sheehy, Trinh Sia, Vinod Aiyappan, William Huynh, Cindy Stern","doi":"10.1080/21678421.2026.2710550","DOIUrl":"https://doi.org/10.1080/21678421.2026.2710550","url":null,"abstract":"<p><p><i>Objective</i>: To inform the development of the Australian MND Guideline, this study aimed to identify challenges Australian healthcare professionals (HCPs) face in the clinical assessment and management of people living with MND (plwMND) including where practice varies from evidence or is underrepresented in the literature and challenges that arise when supporting non-MND specialists. <i>Methods</i>: An anonymous online survey was developed on Qualtrics (Provo, UT) and distributed in July 2025 to members of the Australian MND Guideline Clinical and Content Advisory Group. Demographic data were analyzed using descriptive statistics and verbatim responses were analyzed thematically to a pre-defined framework of guideline scopes and topics. <i>Results</i>: Fifty HCPs, predominantly allied health professionals, completed the survey (55% response rate). HCPs reported diagnostic delays, difficulties accessing timely multidisciplinary support, and challenges coordinating care, particularly outside MND clinic catchment areas. HCPs perceived uncertainty in respiratory support, nutrition, saliva management, and psychological and cognitive care. Variations from guidance reflected gaps and inconsistencies in the evidence base, the need for individualized care, and systemic constraints including funding, workforce shortages, and inequities in access. Non-MND specialists sought guidance on prognosis, referral pathways, symptom management, and end-of-life care. <i>Conclusion</i>: This survey identified areas of clinical practice uncertainty and variability in the clinical assessment and management of plwMND from the perspective of Australian HCPs. These findings will inform the development of the Australian MND Guideline, including prioritization of topics and questions, and consideration of areas where expert consensus is required.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-9"},"PeriodicalIF":2.8,"publicationDate":"2026-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148686593","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}

{"title":"ALSUntangled #84 - ivermectin.","authors":"Benjamin Helmold, Carmel Armon, Michael Benatar, Tulio Bertorini, Mark Bromberg, Andrew Brown, Javier Mascias Cadavid, Olimpia Carbunar, Gregory T Carter, Jesse Crayle, Eva Feldman, Juliette Foucher, Jonathan Glass, Ethan Greenstein, Sartaj Jhooty, Nan Jiang, Noah Nathan Kochen, Christopher McDermott, Natasha Olby, Gary Pattee, Devon Porter, Alan Premasari, Anusha Rao, Dylan Ratner, Kim Staats, Elia Tito, Fernando Vieira, Paul Wicks, Richard Bedlack","doi":"10.1080/21678421.2026.2714724","DOIUrl":"https://doi.org/10.1080/21678421.2026.2714724","url":null,"abstract":"<p><p>ALSUntangled reviews alternative and off-label treatments for people living with amyotrophic lateral sclerosis (PALS). In this review, we explore the possibility of using ivermectin to slow ALS progression. Ivermectin's ability to modulate neuroinflammation and excitotoxicity give it plausible mechanisms for treating ALS, though it does not get into the brain very well. One preclinical study demonstrated that ivermectin lengthened lifespan within a mouse model of mSOD1 genetic ALS. This finding has not been replicated. The 2 PALS we found who had data comparing ALSFRS-R progression on and off ivermectin appeared to have no benefit from it. We found no trials of ivermectin in PALS. Ivermectin is low cost and generally well tolerated with most adverse effects being mild and transient, but serious side effects can rarely occur, and it has not been carefully studied in PALS. We cannot at present endorse ivermectin as an ALS treatment.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-6"},"PeriodicalIF":2.8,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148686557","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}

{"title":"Mental health treatment of persons with ALS & their families: implementing an intervention to support practitioners.","authors":"Jayden Varline, Melissa Enfinger, Melinda S Kavanaugh","doi":"10.1080/21678421.2025.2593304","DOIUrl":"10.1080/21678421.2025.2593304","url":null,"abstract":"<p><p><i>Objective:</i> Given the limited education available to practitioners who provide mental health care for persons with amyotrophic lateral sclerosis (ALS) and their family members, a partnership between Mental Health America, Global Neuro YCare, and the ALS Association developed a web-based education programme providing discussions addressing ALS background, lived experience, and impact of caregiving, to increase confidence in care and access to resources when serving persons living with ALS and their caregivers. <i>Methods:</i> A pre/post survey was utilized to assess the webinar's impact on provider confidence in their knowledge and experience of ALS, access to ALS information and resources, and the ability to refer persons with ALS to care. The percentage change from pretest to post-test, frequency of knowledge, and qualitative analyses were conducted. <i>Results:</i> The findings indicated a 24% increase in practitioners' confidence in working with people with ALS and their family members, a 19% increase in providing mental health care to a family member, and a 20% increase in assessing resource information about ALS. Qualitative data highlighted several categories of responses, including increases in knowledge from the workshop, the need for individuals to be treated as more than just ALS, and a continuing need for training, and additional emotional support for practitioners. <i>Conclusion:</i> The online training increased confidence in providing mental health care to people living with ALS and their family members, adding to this understudied area. Still, additional research is needed to increase confidence in referring people to care, accessing information, and growing knowledge about ALS.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"602-607"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145590071","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}

{"title":"The spinal and bulbar muscular atrophy-health index: a disease-specific outcome measure.","authors":"Abdullah Alqahtani, Jennifer Weinstein, Angela Kokkinis, Alice B Schindler, Nuran Dilek, Charlotte Engebrecht, Charlotte Irwin, Chad Heatwole, Christopher Grunseich","doi":"10.1080/21678421.2026.2620454","DOIUrl":"10.1080/21678421.2026.2620454","url":null,"abstract":"<p><p><i>Objective:</i> Basic science research in spinal and bulbar muscular atrophy (SBMA) has facilitated the development of disease modifying therapeutics. However, there remains a need for disease-specific patient-reported outcome (PROs) measures to monitor changes in disease status. The spinal and bulbar muscular atrophy-health index (SBMA-HI) was designed to address this gap. <i>Methods</i>: Initial interviews with 21 individuals with SBMA and a subsequent international cross-sectional study with 232 participants were conducted to identify the most prevalent and impactful symptoms in SBMA. The most relevant symptoms were included in the SBMA-HI. We subsequently used patient interviews, test-retest reliability evaluation, known groups validity testing, and factor analysis to evaluate and optimize the SBMA-HI. <i>Results:</i> The SBMA-HI tool includes fourteen subscales and one supplemental subscale (for those who are able to ambulate independently) to measure SBMA disease burden from the patients' perspectives. Fifteen adults with SBMA participated in semi-structured beta interviews and found the SBMA-HI to be clear and relevant to them. Twenty-nine adults with SBMA participated in test-retest reliability assessments, which demonstrated high reliability of the SBMA-HI. The final SBMA-HI and its subscales demonstrated a high internal consistency. <i>Conclusion:</i> The SBMA-HI is a reliable disease-specific patient-reported outcome measure capable of quantifying disease burden in SBMA.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"572-580"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146087259","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}