Amyotrophic lateral sclerosis & frontotemporal degeneration最新文献

{"title":"Interventions to support informal carers managing behavioral symptoms in frontotemporal lobar degeneration: a scoping review.","authors":"Ana Paula Trucco, Julieta Camino, Jennifer Bedford, Eneida Mioshi","doi":"10.1080/21678421.2026.2741037","DOIUrl":"https://doi.org/10.1080/21678421.2026.2741037","url":null,"abstract":"<p><strong>Objective: </strong>Informal carers of people living with frontotemporal lobar degeneration (FTLD) face significant challenges in managing complex behavioral symptoms, yet disease specific support remains limited. This scoping review explored non-pharmacological interventions developed to support this carer population.</p><p><strong>Methods: </strong>Database searches were conducted across Medline, APA PsycINFO, CINAHL, ERIC, E-Journals, and Scopus from January 2011 to November 2025, supplemented by hand searching, identifying nine included studies.</p><p><strong>Results: </strong>Interventions broadly comprised occupational therapy-based activity programmes, psychoeducational approaches, and web-based self-management tools. The majority of studies were feasibility or acceptability studies, with findings generally positive; however, behavioral symptoms were inconsistently reported, and sample sizes were small, highlighting that evidence remains at an early stage.</p><p><strong>Conclusion: </strong>Despite the promising nature of existing approaches, structured implementation of non-pharmacological interventions to support informal carers manage behavioral symtoms into clinical practice remains absent. Translating feasible and acceptable interventions into accessible, disease-specific support for carers of people living with FTLD is urgently needed.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-13"},"PeriodicalIF":2.8,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149198145","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":"Mapping the evidence on dignity therapy in amyotrophic lateral sclerosis: a scoping review.","authors":"Annalisa Pini, Claudia Cobel, Felipe Moretti, Giulia Governatori, Milena Bonamici, Tamara Gobbato, Loredana Buonaccorso, Francesca Sireci, Luca Ghirotto","doi":"10.1080/21678421.2026.2742818","DOIUrl":"10.1080/21678421.2026.2742818","url":null,"abstract":"<p><p><i>Objective:</i> To systematically map and synthesize the existing literature on the use of Dignity Therapy (DT) in amyotrophic lateral sclerosis (ALS), with particular attention to feasibility, acceptability, therapeutic outcomes, and clinical adaptations required for patients and caregivers. <i>Methods:</i> A systematic scoping review was conducted searching PubMed/MEDLINE, CINAHL, PsycINFO, and Scopus for studies published in the last ten years examining DT in individuals with ALS. Eligible studies were charted and compared qualitatively due to heterogeneity in design, outcomes, and measurement tools. <i>Results:</i> A total of 237 records were identified, of which five met the eligibility criteria. DT was generally feasible in ALS, including in advanced disease stages, when adapted with augmentative communication devices, email correspondence, or videoconferencing. Acceptability was high across studies, with participants frequently reporting meaningful engagement with the narrative process and positive perceptions of the generativity document. Qualitative evidence indicated potential benefits in existential well-being, emotional adjustment, maintenance of identity, and family communication. Quantitative outcomes were inconsistent, showing variable effects on dignity-related distress, mood symptoms, and spiritual well-being. Caregiver responses were mixed, with some reporting perceived support and others noting limited immediate impact. <i>Conclusions:</i> DT appears to be a promising intervention for addressing existential and relational needs in ALS, though current evidence is limited by small sample sizes and methodological variability. Larger, methodologically rigorous studies are needed to clarify therapeutic effects, optimize delivery adaptations, and evaluate outcomes for both patients and caregivers.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-10"},"PeriodicalIF":2.8,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167499","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":"Assessing the metabolic rate in patients with Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy, and Primary Lateral Sclerosis.","authors":"Mark R Janse van Mantgem, Merle M Kuiper, Frederik J Steyn, Cory J Holdom, Myrte Meyjes, Annemieke Kok, Shyuan T Ngo, Leonard H van den Berg, Ruben P A van Eijk","doi":"10.1080/21678421.2026.2745871","DOIUrl":"https://doi.org/10.1080/21678421.2026.2745871","url":null,"abstract":"<p><strong>Objective: </strong>To determine whether resting energy expenditure (REE) differs between patients with amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS).</p><p><strong>Methods: </strong>Patients with ALS, PMA, and PLS were enrolled between 2017 and 2021 in a prospective cross-sectional study. REE was measured by indirect calorimetry. Body composition was assessed using air displacement plethysmography and used to calculate predicted resting energy expenditure (pREE). Metabolic index (MI) was defined as mREE relative to pREE and expressed as a percentage. Differences between disease categories were assessed using multivariable regression adjusted for sex, age, fat-free mass, fat mass, height, and smoking status.</p><p><strong>Results: </strong>In total, 79 patients with ALS, 33 with PMA, and 30 with PLS were included. MI of ≥110% was observed in 55.7% of patients with ALS, 27.3% with PMA, and 26.7% with PLS. After adjustment, MI differed significantly between disease subtypes (<i>p</i> = 0.019), with the highest mean observed in ALS (108.5%, 95% CI 105.8-111.1), followed by PMA (105.9%, 95% CI 102.6-109.3) and PLS (103.2%, CI 99.8 -106.6). Metabolic measures were not statistically correlated with disease-specific clinical characteristics.</p><p><strong>Conclusions: </strong>Our findings suggest that metabolic phenotype varies across MND subtypes. In the absence of non-neurological controls, findings are best interpreted as indicating that MI-defined hypermetabolism is most prevalent in ALS; however, whether metabolic rate is increased in PMA or PLS relative to the general population remains unknown.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-10"},"PeriodicalIF":2.8,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170460","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":"Specialist psychology provision for ALS/MND: results from a survey of UK ALS/MND services.","authors":"Emily J Mayberry, Sarah Creer, Alys Wyn Griffiths, Esther V Hobson, Sian Davies, Jennifer Bedford, Rebecca L Gould, Christopher J McDermott","doi":"10.1080/21678421.2026.2742816","DOIUrl":"https://doi.org/10.1080/21678421.2026.2742816","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to map and evaluate specialist psychological and neuropsychological care provision within ALS/MND multidisciplinary teams across the UK.</p><p><strong>Methods: </strong>A cross-sectional, mixed-methods online survey was circulated to ALS/MND specialist services across England, Wales, Northern Ireland, and Scotland. The survey evaluated service demographics, specialist psychological staffing models, referral pathways, perceived adequacy of care, and access to other wellbeing support.</p><p><strong>Results: </strong>Responses were received from 25/36 services (69% response rate), representing an estimated 3,500 patients. Access to specialist care was highly variable, with 24% of services lacking an established referral pathway and 20% having a referral pathway for patients living in some parts of their service area but not others. Importantly, even for those services with access to specialist psychology, nearly all reported that the specialist psychology provision was insufficient to meet the needs of their service users and the service; 80% of these services reported insufficient capacity to deliver direct assessments and interventions. Qualitative data highlighted inequitable and insufficient provision, the fragmented nature of current psychological care, and the need for sufficient and stable funding for specialist psychology provision in ALS/MND.</p><p><strong>Conclusions: </strong>Despite international guidelines recognizing the necessity of specialist psychological and neuropsychological care in ALS/MND, access across the UK remains highly inequitable and under-resourced. To meet UK national standards (NICE) and prevent the negative impacts of untreated psychological distress and inequitable access, more resource allocation is required to integrate specialist psychology as a core component of ALS/MND care.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-11"},"PeriodicalIF":2.8,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149088","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":"Harmonizing ALS research data across multimodal data sets using the OMOP Common Data Model.","authors":"Brandon Jernigan, Hannah L Walters, Diane Corey, Albert Garcia, Alan Premasiri, William T Roddy, Dillon Shearer, Terri G Thompson, Jason Tucker, Fernando Vieira, Danielle Boyce","doi":"10.1080/21678421.2026.2738533","DOIUrl":"https://doi.org/10.1080/21678421.2026.2738533","url":null,"abstract":"<p><p>Three nonprofit organizations-ALS Therapy Development Institute (ALS TDI), Answer ALS, and the Critical Path Institute (C-Path)-collaborated to harmonize distinct ALS research datasets using the Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM). This effort was designed to make otherwise separate ALS resources more comparable, enabling larger and more informative cross-cohort analyses. The teams coordinated vocabulary mapping, identified OMOP vocabulary gaps, and submitted new concepts to the Observational Health Data Science and Informatics (OHDSI) community for approval. Harmonized data from ALS TDI and Answer ALS were merged in the Neuromine data portal, while their clinical and digital health technology (DHT) datasets are also available through C-Path's Rare Disease Cures Accelerator-Data Analytics Platform (RDCA-DAP). This collaboration aligns with current regulatory priorities for data sharing and offers a model for harmonizing rare disease data. A robust, public GitHub repository was established to share real-time updates with the ALS research community.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-3"},"PeriodicalIF":2.8,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149139463","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 characterization of <i>FUS</i>-associated ALS in a tertiary cohort.","authors":"Veronica Bettoni, Samir R Nath, Stephen Johnson, Björn Oskarsson, Alissa Bojko, Arash Salmaninejad, Jennifer Tan-Arroyo, Margot A Cousin, Nathan P Staff","doi":"10.1080/21678421.2026.2743446","DOIUrl":"https://doi.org/10.1080/21678421.2026.2743446","url":null,"abstract":"<p><p>An understanding of <i>FUS</i>-related ALS is becoming increasingly actionable with the emergence of targeted therapies. We retrospectively reviewed patients with amyotrophic lateral sclerosis and reported <i>FUS</i> variants evaluated across all Mayo Clinic sites between January 2009 and June 2026. Variants were reevaluated according to ACMG/AMP criteria, and clinical and genetic data were abstracted from medical records. The primary cohort included 12 unrelated patients with pathogenic or likely pathogenic (P/LP) <i>FUS</i> variants; 6 patients with variants of uncertain significance were retained descriptively. Pathogenic variants clustered in the C-terminal region, including one previously unreported likely pathogenic frameshift variant, c.1491_1494dup. Patients with pathogenic variants showed early-onset, rapidly progressive disease with frequent bulbar or respiratory onset, predominant lower motor neuron findings, and short survival. Observed phenotypes were broadly consistent with previous variant-specific reports. These findings expand variant-specific natural history data in <i>FUS</i>-ALS and may inform prognosis, patient stratification, and the interpretation of emerging <i>FUS</i>-targeted therapeutic studies.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-4"},"PeriodicalIF":2.8,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119211","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":"N-terminal proVGF modifications related to Amyotrophic Lateral Sclerosis.","authors":"Aqsa Anjum, Antonio Luigi Manai, Barbara Noli, Giuseppe Borghero, Marcello Mario Mascia, Mario Meloni, Humaidan Kais, Michela Figorilli, Monica Puligheddu, Cristina Cocco","doi":"10.1080/21678421.2026.2742817","DOIUrl":"https://doi.org/10.1080/21678421.2026.2742817","url":null,"abstract":"<p><p><i>Objective</i>: Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by motor dysfunction, for which effective therapies and early diagnostic biomarkers remain limited. This study comprehensively investigated ALS-associated alterations in the N-terminal region of the proVGF precursor protein, evaluating their potential as novel diagnostic and prognostic biomarkers and exploring their precise correlations with clinical severity and plasma neurofilament light chain (NfL), an established indicator of neuroaxonal injury. <i>Methods</i>: N-terminal proVGF levels were quantified using a custom immunoassay using human plasma and lymphocytes as well as motor neuron-like NSC-34 cells subjected to oxidative stress. The clinical cohort comprised 49 ALS patients (28 early-stage, 21 advanced-stage) and 50 age-matched healthy controls. To assess disease specificity, plasma from patients with Parkinson's disease (PD, n = 50), idiopathic dystonia (n = 15), and idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD, n = 21) was analyzed alongside respective age-matched healthy controls (n = 26, 8, and 20). Furthermore, plasma NfL levels were measured and directly correlated with N-terminal proVGF concentrations. <i>Results</i>: N-terminal proVGF levels were significantly increased in both plasma and lymphocytes during the early and advanced stages of ALS. Plasma NfL levels were concomitantly elevated across all ALS patients. In advanced-stage patients, N-terminal proVGF concentrations significantly correlated with both ALSFRS-R scores and NfL levels. No significant N-terminal proVGF alterations were observed in PD, iRBD, or dystonia cohorts. Oxidative stress similarly upregulated N-terminal proVGF levels <i>in vitro</i> within NSC-34 cells. <i>Conclusion</i>: Alterations of the N-terminal region of proVGF are specific to ALS, highlighting their dual value as diagnostic and prognostic biomarkers.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-9"},"PeriodicalIF":2.8,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149129530","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":"Assessing consciousness in end-stage ALS: response to young's commentary.","authors":"Sandra Frycz, Wiktor WiĘcławski, Marcin Skotniczny, Marek Binder","doi":"10.1080/21678421.2026.2739760","DOIUrl":"https://doi.org/10.1080/21678421.2026.2739760","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-2"},"PeriodicalIF":2.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119139","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":"Correction.","authors":"","doi":"10.1080/21678421.2026.2740377","DOIUrl":"https://doi.org/10.1080/21678421.2026.2740377","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149066705","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":"Cognitive and behavioral manifestations of the C9orf72 mutation in Amyotrophic Lateral Sclerosis: an age, education, and gender-matched cohort study.","authors":"Seán O'Farrell, Maria Christina Holland, Colm Peelo, Russell McLaughlin, Mark Heverin, Orla Hardiman, Emmet Costello, Niall Pender","doi":"10.1080/21678421.2026.2721333","DOIUrl":"https://doi.org/10.1080/21678421.2026.2721333","url":null,"abstract":"<p><strong>Objectives: </strong>The presence of a hexanucleotide expansion in the gene C9orf72 confers a higher risk of developing ALS and FTD with associated cognitive and behavioral change, although penetrance is incomplete, and many gene carriers never exhibit any clinical signs during their lifetime. To date, there have been few studies investigating additional factors such as age, years of education, gender, and their influence on cognition and behavior in people with ALS (pwALS), particularly those with a hexanucleotide expansion in the gene C9orf72.</p><p><strong>Methods: </strong>We selected 104 consenting pwALS from the Irish ALS register, comprising 52 C9orf72 positive participants and 52 C9orf72 negative controls matched on age, years of education, and gender. Cognitive functioning was assessed using the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), while behavioral changes were examined using the Beaumont Behavioral Inventory (BBI).</p><p><strong>Results: </strong>No significant differences in ECAS performance were observed across the two groups, with the exception of visuospatial performance, which was more impaired in those carrying the C9orf72 repeat expansion (<i>p</i> = .001). Similarly, there was no difference in behavoural scores between the 2 groups.</p><p><strong>Conclusions: </strong>These findings suggest that the presence of the C9orf72 repeat expansion does not presage the development of significant cognitive or behavioral impairment early in the disease stage when controlled for age, years of education, and gender. When interpreting these results, it is important to consider the relatively small sample size, and the exclusion criteria of previous clinically significant comorbidities.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-8"},"PeriodicalIF":2.8,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148842414","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}