Amyotrophic lateral sclerosis & frontotemporal degeneration最新文献

{"title":"Noninvasive assessment of cardiovascular autonomic reflexes in amyotrophic lateral sclerosis: a systematic review.","authors":"Sorfina Ilham Rozman, Nur Azah Hamzaid, Einly Lim, Norhamizan Hamzah","doi":"10.1080/21678421.2026.2692135","DOIUrl":"10.1080/21678421.2026.2692135","url":null,"abstract":"<p><p>Dysautonomia is gradually recognized in amyotrophic lateral sclerosis (ALS), raising concerns of secondary complications from heightened autonomic burden. Autonomic disturbances, particularly cardiac dysautonomia, significantly impact patient outcomes, contributing to increased cardiovascular risks and mortality rate. While the ALS Functional Rating Score-Revised (ALSFRS-R) measures functional decline as disease progress, it overlooks autonomic criteria - a critical factor in ALS progression. This review aims to analyze noninvasive applications of cardiovascular signal variability for continuous real-time monitoring of autonomic dysfunction in ALS, while addressing gaps in current clinical assessments. A total of 584 literatures were gathered from four databases (WoS, PubMed, Science Direct and MEDLINE EBSCOhost) - published from inception till December 2023. 21 peer-reviewed studies were included in this review after screening and meeting the inclusion criteria. Various cardiovascular signal variability metrics and autonomic protocols were discussed. Key findings highlight cardiac autonomic dysfunction in ALS is marked by reduced heart rate variability, absent blood pressure regulation upon orthostatic stress and circadian changes, prolonged QTc interval and low baroreflex sensitivity. Moreover, increased autonomic burden is associated with a shift from sympathetic to parasympathetic dysregulation as the disease progresses. Evidence highlights the need to integrate noninvasive autonomic biomarkers into digital ALS monitoring frameworks, enabling earlier detection of autonomic involvement and more precise longitudinal monitoring beyond motor decline.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"748-766"},"PeriodicalIF":2.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148341198","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":"Death certificate data of patients with amyotrophic lateral sclerosis in easternmost Finland.","authors":"Jussi Sipilä, Eino Solje, Sanna Ahola, Leena Surakka, Manu Jokela","doi":"10.1080/21678421.2026.2662015","DOIUrl":"10.1080/21678421.2026.2662015","url":null,"abstract":"<p><p><i>Objective</i>: Topical data on causes of death and death certificate (DC) accuracy in patients with amyotrophic lateral sclerosis (ALS) are constantly needed. <i>Methods</i>: Data on a previously published ALS cohort from North Karelia in easternmost Finland was updated by extracting DC information from the electronic health records. <i>Results</i>: Death certificate data were available for 91% of the deceased. In all cases, ALS had been coded as a cause of death. In four cases, it had been inserted as a contributory cause of death. In three cases, ALS was indicated but incorrect coding was used. Three of the four cases in which ALS had not been deemed the underlying or immediate cause of death were cardiovascular deaths. One or more contributory causes of death had been recorded in 28% of DCs (54% of these were cardiovascular disorders), although comorbidities had not always been coded in the DC. In individual cases, the death had been sudden and unexpected, resembling a cardiovascular death, but this had not been coded. <i>Conclusion</i>: Finnish DC data remain a very reliable data source for ALS epidemiology, albeit with the caveat that data need to be obtained rigorously. Comorbidities are incompletely recorded as may be some immediate causes of death.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"935-937"},"PeriodicalIF":2.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147790494","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 novel heterozygous GRN deletion (c.302_315del) associated with behavioral variant frontotemporal dementia.","authors":"Li Liu, Yan Gao, Zichang Wang, Shuo Qu, Fangyuan Yan, Shuaixiang Wang, Jiayi Liang, Mengwei Yuan, Xiaowei Ma","doi":"10.1080/21678421.2026.2674011","DOIUrl":"10.1080/21678421.2026.2674011","url":null,"abstract":"<p><p>We present the case of a 64-year-old woman who was evaluated for progressive behavioral and cognitive decline. Her clinical presentation was characterized by marked personality changes, apathy, and disinhibition, accompanied by irritability, executive dysfunction, and memory impairment. Neuropsychological assessment revealed significant cognitive impairment, with a Mini-Mental State Examination (MMSE) score of 14 and a Montreal Cognitive Assessment (MoCA) score of 11. Brain MRI revealed prominent asymmetric fronto-temporo-parietal atrophy, worse on the right. A heterozygous pathogenic granulin (GRN) mutation (c.302_315del) was identified via whole-exome sequencing and was also found in one of her sons. This case expands the mutational spectrum of <i>GRN</i> and underscores its diagnostic relevance in behavioral variant frontotemporal dementia (bvFTD).</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"931-934"},"PeriodicalIF":2.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148007673","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":"Emerging strategies for interpreting variants of uncertain significance (VUS) in amyotrophic lateral sclerosis.","authors":"Minhal Ahmed, Kathryn Volkening, Crystal Mclellan, Christen Shoesmith, Tugce B Balci, Michael J Strong","doi":"10.1080/21678421.2026.2655734","DOIUrl":"10.1080/21678421.2026.2655734","url":null,"abstract":"<p><p>As the use of genetic testing for neurological diseases increases exponentially, interpreting variants of uncertain significance (VUS) has become a challenging problem. Nowhere has this become more evident than in amyotrophic lateral sclerosis (ALS) and the frontotemporal dementias (FTDs), both of which are complex heterogeneous disorders in which an increasing array of disease-causative and modifying genetic variants are observed. Moreover, while traditionally identified as distinct clinical syndromes, ALS and FTD are increasingly recognized to exist along a spectrum of clinical syndromes (termed the frontotemporal spectrum disorders of ALS; ALS-FTSD) with shared genetic risk. While VUS are generally not used in clinic for decision-making or counseling given their obvious limitations in being medically actionable, their correct interpretation is dynamic and rapidly evolving. VUS are increasingly the subject of intensive study as potential determinants of biological outcomes. It is timely therefore to review the current state of VUS interpretation and to critically evaluate how this can be applied to enhance both patient care and treatment decisions in the broader context of neurological disorders and more specifically in the context of ALS and ALS-FTSD. In doing so, we also explore the evolving challenge of defining pathogenicity of oligogenic inheritance in the context of multiple VUS detection in a single individual using an illustrative case example.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"793-807"},"PeriodicalIF":2.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700852","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":"¹⁸F FDG-PET correlates of motor neuron disease motor variants.","authors":"Boris Deleu, Patrick Dupont, Kato Bracaval, Fouke Ombelet, Frederik Hobin, Nikita Lamaire, Koen Van Laere, Philip Van Damme, Joke De Vocht","doi":"10.1080/21678421.2026.2682820","DOIUrl":"10.1080/21678421.2026.2682820","url":null,"abstract":"<p><p>While ¹⁸F-fluorodeoxyglucose positron emission tomography (FDG-PET) is an established biomarker in amyotrophic lateral sclerosis (ALS), the metabolic correlates of motor neuron disease (MND) motor variants remain poorly defined. This is why we investigated patterns of cerebral glucose metabolism across the spectrum of MNDs, including progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), and ALS. We retrospectively included 18 PMA, 25 PLS, and 43 matched non-hereditary ALS patients according to most recent diagnostic criteria. FDG-PET imaging revealed similar widespread hypometabolism in PMA, as in ALS, whereas PLS showed a more focal motor cortical pattern of hypometabolism. Despite clinical differences between MND subtypes, PMA and ALS showed similar FDG-PET metabolic patterns, whereas PLS exhibited a more restricted cortical signature in this retrospective study.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"865-869"},"PeriodicalIF":2.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148207212","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":"Beyond outcomes: patients' lived experience of exoskeleton-assisted gait training in amyotrophic lateral sclerosis.","authors":"Ghida Trad, Timothée Lenglet, Giorgia Querin, Sophie Blancho, Véronique Marchand-Pauvert, Jean-Yves Hogrel, Pierre-François Pradat","doi":"10.1080/21678421.2026.2674021","DOIUrl":"10.1080/21678421.2026.2674021","url":null,"abstract":"<p><strong>Objectives: </strong>To explore patients' expectations and lived experience of Atalante exoskeleton-assisted gait training in amyotrophic lateral sclerosis (ALS).</p><p><strong>Methods: </strong>In the EXALS study (NCT06199284), 10 ambulatory ALS participants completed 18 sessions of Atalante exoskeleton-assisted gait training. After completion of the intervention phase, post-training semi-structured interviews were audio-recorded, transcribed verbatim, and analyzed using inductive qualitative content analysis approach. Structured interview items were summarized descriptively.</p><p><strong>Results: </strong>Ten participants reported positive expectations and experiences. Initial expectations most often included contributing to research (5/10), maintaining walking ability (4/10), and improving gait quality/balance (3/10). Expectation fulfillment was high (very satisfied: 7/10). The rehabilitative aspect was most frequently ranked as most reflective of the experience (rank 1: 4/10), followed by motivational/recreational (rank 2: 4/10), psychological/emotional was most often ranked last (rank 5: 5/10). Participants described perceived benefits including improved upright posture, stability, reduced stiffness, smoother gait, and reduced fear of falling, though some effects were described as short-lived. Three-word summaries were predominantly positive (8/10), commonly \"interesting\" and \"motivating,\" with occasional negatives (tiring/heavy/repetitive/disappointing; 2/10). Compared with conventional physiotherapy, sessions were perceived as more dynamic and walking-focused, with a structured, innovative, closely supervised set-up. Suggested improvements centered on increasing access/dose, expanding walking space and training content, and enhancing safety/user control. Most participants would continue training if available (8/10), most commonly preferring two sessions per week (4/8).</p><p><strong>Conclusions: </strong>Exoskeleton-assisted gait training was experienced as acceptable and meaningful. Translating this into practice will require aligning future protocols with patient priorities, autonomy/safety, access and delivery logistics, and broader functional content alongside quantitative evaluation.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"828-836"},"PeriodicalIF":2.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148019125","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":"End-of-life care of patients with amyotrophic lateral sclerosis and home mechanical ventilation: the national population-based DISCOVERY study.","authors":"Mikaela Dalkvist, Karin Ersson, Stefan Bergström, Magnus Ekström, Össur Ingi Emilsson, Ludger Grote, Caroline Ingre, Ulf Kläppe, Staffan Lundström, Ingela Nygren, Josefin Sundh, Andreas Palm","doi":"10.1080/21678421.2026.2747563","DOIUrl":"https://doi.org/10.1080/21678421.2026.2747563","url":null,"abstract":"<p><p><i>Background:</i> Home mechanical ventilation (HMV), including noninvasive ventilation (NIV) and invasive ventilation (IV), is increasingly used in people with amyotrophic lateral sclerosis (pwALS), but its impact on end-of-life care remains unclear. <i>Objective:</i> To examine whether ventilation pathway (NIV or IV) influences symptom prevalence and relief during the final week of life in pwALS. Secondary objectives were to assess end-of-life discussions, place and cause of death, and anticipated death. <i>Methods:</i> This national, population-based retrospective cohort study included pwALS using HMV in the Swedish National Quality Registry for Respiratory Failure (Swedevox), cross-linked with the Swedish Register of Palliative Care, which contains staff-reported end-of-life data, and other national registries. <i>Results:</i> Among 652 pwALS, 609 received NIV (mean age 66 years, 42% female) and 43 IV (mean age 60 years, 42% female). Anxiety and breathlessness were more common in the NIV group (76% vs 48% and 72% vs 31%, both p < 0.001), while prevalence and relief of other symptoms were similar between groups. Most patients had end-of-life discussions (NIV 87%, IV 92%). NIV patients more often died in specialized palliative wards (22% vs 7%, p = 0.023). Most deaths were due to ALS (96%) and were anticipated (NIV 94%, IV 88%). <i>Conclusions:</i> In pwALS with HVM, NIV was associated with higher rates of anxiety and breathlessness in the final week of life, but the ventilation pathway did not influence overall symptom relief. End-of-life communications and cause of death were similar; place of death differed by ventilation pathway; however, most deaths were anticipated.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-8"},"PeriodicalIF":2.8,"publicationDate":"2026-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149240705","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":"10.1080/21678421.2026.2751860","DOIUrl":"https://doi.org/10.1080/21678421.2026.2751860","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149229449","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":"Factors associated with post-tracheostomy survival in Amyotrophic Lateral Sclerosis.","authors":"Alessandra Maccabeo, Sara Cabras, Stefano Callegaro, Maria Ida Pateri, Francesca Pili, Antonio Canosa, Umberto Manera, Francesca Palumbo, Enrico Matteoni, Giorgio Pellegrino, Emilio Minerva, Alessandro Ciravegna, Giulia Gianferrari, Monica Puligheddu, Cristina Moglia, Fabiola De Marchi, Letizia Mazzini, Jessica Mandrioli, Giuseppe Borghero, Adriano Chiò, Andrea Calvo, Rosario Vasta","doi":"10.1080/21678421.2026.2742815","DOIUrl":"https://doi.org/10.1080/21678421.2026.2742815","url":null,"abstract":"<p><strong>Objective: </strong>To identify demographic and clinical factors associated with post-tracheostomy survival using three well-characterized cohorts of patients with Amyotrophic Lateral Sclerosis (ALS).</p><p><strong>Methods: </strong>ALS patients from the Piemonte and Valle d'Aosta ALS Register (PARALS) diagnosed between 1995-2019 interval who underwent tracheostomy were included. A multivariable Cox proportional hazards model was used to identify factors associated with post-tracheostomy survival. Significant findings were tested in two independent cohorts, the Emilia-Romagna Region ALS Register (ERRALS) and an incident ALS cohort from South Sardinia.</p><p><strong>Results: </strong>A total of 449 patients from PARALS underwent tracheostomy during the study period, with a median post-tracheostomy survival of 16.3 months (IQR 4.0-45.0). Younger age at tracheostomy was associated with longer survival (HR 1.03 per one-year increase, 95%CI1.01-1.05, p = 0.001), as being married/cohabiting (HR 0.78, 95%CI0.61-0.98, <i>p</i> = 0.033), a longer diagnosis-to-tracheostomy interval (HR 0.84 per one-year increase, 95%CI0.79-0.90, p < 0.001) and a lower ALS Functional Rating Scale slope from onset to tracheostomy (HR 1.13 per one-unit increase, 95%CI1.03-1.25, <i>p</i> = 0.012). These associations were replicated in the independent cohorts, when data were available. Additionally, discharge to nursing homes was associated with poorer survival in the Sardinian cohort (HR 4.23, 95%CI2.49-7.19; <i>p</i> < 0.001), whereas a more recent year of tracheostomy was associated with longer survival in the ERRALS cohort (HR 0.95, 95%CI0.90-0.99; <i>p</i> = 0.019).</p><p><strong>Discussion: </strong>We identified multiple factors associated with post-tracheostomy survival in ALS patients, encompassing clinical and demographic characteristics at tracheostomy as well as local factors influencing peri- and post-operative care. These findings may support decision-making and clinician-patient communication in the advanced stages of ALS.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-10"},"PeriodicalIF":2.8,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220765","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":"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}