Amyotrophic lateral sclerosis & frontotemporal degeneration最新文献

{"title":"Neurologists' understanding of reproductive medicine options for genetic forms of motor neuron disease.","authors":"Shanice Allen, Jade Howard, Christopher J Mcdermott, Felicity Boardman, Alisdair Mcneill","doi":"10.1080/21678421.2024.2416677","DOIUrl":"10.1080/21678421.2024.2416677","url":null,"abstract":"<p><strong>Objectives: </strong>To examine the knowledge, confidence and practice of motor neuron disease (MND) clinicians toward discussing reproductive options with people who carry a causal variant in an MND gene (both clinically affected and asymptomatic).</p><p><strong>Methods: </strong>An online cross-sectional survey was distributed nationwide to UK MND clinicians and clinical geneticists and genetic counselors. The survey assessed respondents' understanding on reproductive medicine techniques; their confidence in discussing reproductive medicine options and their access to information resources.</p><p><strong>Results: </strong>Seventy six clinicians responded to the online survey (45 neurology clinicians and 31 clinical geneticists). MND clinicians had limited knowledge and low confidence in discussing reproductive medicine options. Geneticists were more likely to carry out reproductive genetic counseling with very few MND clinicians reporting undertaking these discussions. Further, 57% of the 45 MND clinicians surveyed reported to have never made a referral for reproductive genetic counseling. Multiple barriers to offering reproductive counseling or referral were identified including a lack of knowledge, lack of awareness of the different options, lack of clinic time and uncertainty around issues such as funding for PGT and whose responsibility it comes under.</p><p><strong>Conclusions: </strong>There is a need for training and education on reproductive options and referral for these options needs to be integrated within the health system. Developing more resources for both clinicians and patients is required as MND clinicians reported a lack of resources.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"331-342"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485962","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":"Care trajectories and adherence to respiratory management recommendations in persons living with amyotrophic lateral sclerosis: a ten-year cohort study in a French tertiary university centre.","authors":"Pierre Tankéré, Estelle Cascarano, Christel Saint Raymond, Martial Mallaret, Cristina Toribio Ruiz, Eléonore Herquelot, Helene Denis, Mallory Cals Maurette, Renaud Tamisier, Jean Louis Pépin","doi":"10.1080/21678421.2024.2447911","DOIUrl":"10.1080/21678421.2024.2447911","url":null,"abstract":"<p><p><i>Objective</i>: This study determined real-life care trajectories before and after initiation of noninvasive ventilation (NIV) in patients with amyotrophic lateral sclerosis (ALS). Caregiver adherence to respiratory management recommendations and the associated survival rate of people with ALS were also assessed. <i>Methods</i>: Data were obtained from a tertiary center prospective ALS database that included 10 years of follow-up data for people with ALS. Results are presented numerically and with graphical time sequence analysis through K clustering (TAK) representation. Kaplan Meier and Cox models were used to determine survival and associated prognostic factors. <i>Results:</i> 109 patients with ALS patients were included; median [interquartile range] follow-up was 25.0 months [15.3-43.3]. During study timeframe patients had a median of 4.0 [2.0-6.0] clinical visits; death occurred in 54.1%. Median time between clinical visits was 3.9 [2.8-6.5] months, between arterial blood gases was 4.3 months [3.0-6.6], between spirometry testing was 5.8 months [4.1-8.2], and between nocturnal oximetry was 4.4 months [3.0-7.8]. Visualization of care trajectories TAK show marked heterogeneity in survival, time to NIV initiation, and time from NIV initiation to death. Mortality was correlated with NIV initiation and arterial carbon dioxide pressure increase. <i>Conclusions</i>: The current framework in ALS guidelines should be adapted to the ALS disease stage and individual patient characteristics. Understanding how subgroups of patients with ALS use healthcare services over time could help to highlight fragility areas and priorities in the allocation of care resources and implementation of best practices.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"259-267"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924155","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":"Exploring the role of anthropometric measurements to assess nutritional status in amyotrophic lateral sclerosis: a longitudinal prospective cohort study.","authors":"Sarah Roscoe, Scott P Allen, Christopher McDermott, Theocharis Stavroulakis","doi":"10.1080/21678421.2024.2434176","DOIUrl":"10.1080/21678421.2024.2434176","url":null,"abstract":"<p><strong>Objective: </strong>To observe longitudinal correlations between limb anthropometry against weight, BMI and functional decline in patients with amyotrophic lateral sclerosis.</p><p><strong>Methods: </strong>A longitudinal, prospective, cohort study was undertaken. Four consecutive measurements of weight, height, triceps skinfold thickness (TSF), mid-upper arm (MUAC) and calf circumferences were collected at three-monthly intervals. Fat- and lean body mass were estimated using measurements of TSF and derivations of arm muscle area, respectively. Correlation analyses indicated associations between anthropometric assessments and functional decline (ALSFRS-R). Longitudinal changes were assessed using repeated measures analyses.</p><p><strong>Results: </strong>Data from 18 participants was analyzed. At enrollment, weight positively correlated with MUAC (n = 17, p = 0.0001), arm muscle area (n = 17, p = 0.04) and calf circumference (n = 17, p < 0.0001). The ALSFRS-R score negatively correlated with weight (n = 17, p = 0.03), MUAC (n = 18, p = 0.01), TSF (n = 18, p = 0.04), and calf circumference (n = 18, p = 0.003). Function significantly declined by a difference of 6.3 points per month (p = 0.009). A positive correlation was observed between the changes in weight and calf circumference over nine months (r = 0.70, p = 0.02, <i>n</i> = 10).</p><p><strong>Conclusion: </strong>Limb anthropometric measurements may be surrogate indicators of weight and BMI; TSF may be a practical, reliable indicator of fat mass, whilst changes in calf circumference may be alternatively used to monitor changes in nutritional status in the clinic.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"225-238"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830966","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":"Thoracic electrical impedance tomography for assessing progression of pulmonary dysfunction in ALS.","authors":"Seward B Rutkove, Courtney E McIlduff, Elijah Stommel, Sean Levy, Christy Smith, Hilda Gutierrez, Sarah Verga, Soleil Samaan, Chebet Yator, Ajitesh Nanda, Buket Sonbas-Cobb, Teresa Capella, Lisa Pastel, Allaire Doussan, Kathy Phipps, Ethan Murphy, Ryan Halter","doi":"10.1080/21678421.2024.2434174","DOIUrl":"10.1080/21678421.2024.2434174","url":null,"abstract":"<p><p><i>Objective</i>: We compared thoracic electrical impedance tomography (EIT) with slow vital capacity (SVC) to determine if EIT could monitor pulmonary function in ALS patients longitudinally. <i>Methods</i>: Of 32 ALS patients and 32 age- and sex-matched healthy controls (HCs) initially enrolled in the Pulmonary Function via Impedance Tomography (PuFIT) study, 22 ALS and 20 HCs returned for a follow-up visit ∼3.9 months later. All participants had thoracic EIT measurements performed simultaneously with standard SVC in upright and supine positions at both visits. EIT data from each measurement were summarized as a single parameter, the impedance-SVC (zSVC), representing an averaged impedance change across both lungs. We assessed alterations over time for both cohorts of participants. <i>Results</i>: Sufficient quality EIT and SVC data were available for 18 of the patients with ALS and 19 HCs. Over time, mean upright SVC significantly declined by 5% in the ALS group and did not change in the healthy group. Supine SVC showed no change in either group. Although mean trajectories of zSVC mirrored mean SVC trajectories in both participant cohorts, changes in zSVC in ALS patients did not reach significance, due to greater variability in the repeated measures. <i>Conclusion</i>: Despite strong cross-sectional correlations to SVC, EIT did not detect a decline in pulmonary function over approximately four months. Increased variability in EIT data explains the lack of sensitivity to change. Technological improvements and special care with electrode placement will be needed for EIT to reach its full potential in longitudinal assessment of pulmonary function in ALS.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"296-302"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12005973/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142775005","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":"Rapid progression of amyotrophic lateral sclerosis after initiation of GLP-1 agonist: a case report.","authors":"Kathleen Stolwyk, Ikjae Lee","doi":"10.1080/21678421.2024.2446847","DOIUrl":"10.1080/21678421.2024.2446847","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"382-384"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12005962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959877","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":"Stitching strength: things I've learned about hope and how I am trying to weave them into my in ALS practice.","authors":"Richard Bedlack","doi":"10.1080/21678421.2025.2454903","DOIUrl":"10.1080/21678421.2025.2454903","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"189-191"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017302","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":"Genetic ancestry and risk allele C9orf72 rs3849942 T for amyotrophic lateral sclerosis in Latin American populations.","authors":"Sergio V Flores, Patricia Lillo, Alejandro Levi-Monsalve, Ángel Roco-Videla, Román Montaña","doi":"10.1080/21678421.2024.2447459","DOIUrl":"https://doi.org/10.1080/21678421.2024.2447459","url":null,"abstract":"<p><p>This study examines the relationship between genetic ancestry and the rs3849942 T allele, linked to ALS, in 347 Latin American individuals from the 1000 Genomes Project. Ancestry proportions were estimated using 446 AIMs, and associations were analyzed via logistic regression. Higher Native American ancestry significantly reduced the likelihood of carrying the T allele, while European ancestry increased it. These findings emphasize the importance of incorporating genetic diversity into ALS research.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":"26 3-4","pages":"379-381"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035718","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":"Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene.","authors":"Alisdair Mcneill, Andrew G L Douglas, Rhona Macleod, Nayana Lahiri","doi":"10.1080/21678421.2024.2438153","DOIUrl":"10.1080/21678421.2024.2438153","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"352-353"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796647","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":"Can resting lung function predict the response of a person living with motor neuron disease to a hypoxic challenge test?","authors":"Talia A Clohessy, Nicole L Sheers, David J Berlowitz, Warren R Ruehland, Danny J Brazzale","doi":"10.1080/21678421.2024.2423714","DOIUrl":"10.1080/21678421.2024.2423714","url":null,"abstract":"<p><strong>Objective: </strong>People living with MND (PlwMND) are at risk of altitude-related hypoxia during flight. The Hypoxic Challenge Test (HCT) determines whether in-flight oxygen is required but can be expensive and inaccessible. To assist with travel recommendations, we investigated the relationship between altitude simulation-induced hypoxemia and baseline lung function.</p><p><strong>Methods: </strong>Retrospective audit of clinical database of PlwMND who had HCT and lung function. Pearson's correlation assessed relationships between oxygen saturation at altitude (AltSpO₂) and lung function. Univariate logistic regression analysis and receiver operator characteristic (ROC) curves determined associations between lung function and HCT pass or fail.</p><p><strong>Results: </strong>Between 2004-2023, 50 PlwMND were identified (median (IQR) diagnosis to HCT = 11.6 (16.9) months, mean ± SD forced vital capacity (FVC) = 2.4 ± 0.9 liters). Ten patients dropped below 85% SpO₂ during testing (HCT fail). Baseline SpO₂ was associated with AltSpO₂ (<i>r</i> = 0.64) and predicted HCT pass or fail (OR 2.0 [95% CI 1.2-3.4], area under ROC curve (AUC) =0.8 [0.6-1.0]), as did FVC (AUC = 0.8 [0.6-0.9]). PlwMND with a FVC > 2.7L or a resting SpO₂ > 97% are likely to pass HCT, whereas all those with FVC < 1L and SpO₂ < 92% failed.</p><p><strong>Conclusion: </strong>PlwMND with FVC >2.7L or SpO₂ >97% are unlikely to require oxygen or ventilatory supports for airline travel. A FVC below 2.7L will require a HCT to confidently determine HCT outcome, with testing still required for FVC <1L or baseline SpO₂ <92%, to provide evidence to the airlines for in-flight respiratory support.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"203-210"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583754","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":"Determinants and progression of stigma in amyotrophic lateral sclerosis/motor neuron disease.","authors":"Carolyn A Young, Amina Chaouch, Christopher J Mcdermott, Ammar Al-Chalabi, Suresh K Chhetri, Caroline Bidder, Elizabeth Edmonds, Cathy Ellis, Joe Annadale, Lisa Wilde, Basil Sharrack, Andrea Malaspina, Oliver Leach, Roger Mills, Alan Tennant","doi":"10.1080/21678421.2024.2435969","DOIUrl":"10.1080/21678421.2024.2435969","url":null,"abstract":"<p><p><i>Objective</i>: Stigma in amyotrophic lateral sclerosis/motor neurone disease (ALS/MND) may be felt or enacted; felt stigma covers feeling devalued by the illness, whereas enacted stigma refers to being treated differently because of it. Stigma in ALS/MND has been shown to increase social withdrawal, worsen quality of life, and reduce use of assistive devices, so we explored prevalence and factors influencing stigma. <i>Methods</i>: Participants in the Trajectories of Outcome in Neurological Conditions-ALS study completed scales measuring stigma, fatigue, spasticity, functioning, mood, worry, self-esteem, and perceived health, as well as demographic information and symptoms like head drop or emotional lability. Following transformation to interval-scale estimates, data were analyzed by regression, structural equation modeling, and trajectory models. <i>Results</i>: Stigma was experienced by 83.5% of 1059 respondents. Worry, disease severity (King's stage ≥ 3), emotional lability, fatigue, spasticity, and bulbar onset increase stigma. In contrast, increasing age, living with spouse/partner, and greater self-esteem were associated with reduced stigma. Trajectory analysis over 30 months (<i>N</i> = 1049) showed three groups, the largest (70.2%) had high levels of stigma which significantly increased during follow-up. In a recently diagnosed subset of 347 participants, stigma was experienced early in the disease course (<7 months after diagnosis), and for 77.2% stigma significantly increased over time. <i>Conclusions</i>: Both felt and enacted stigma are frequently perceived by people living with ALS/MND. Younger people and those with bulbar onset, emotional lability, worry, fatigue, and spasticity, or at more advanced clinical stages, are at greater risk.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"192-202"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924159","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}