Neurology and Therapy最新文献

{"title":"Impact of Natalizumab on Productivity and Ability to Work in Patients with Multiple Sclerosis in France: The TITAN Study.","authors":"Patrick Vermersch, Arnaud Kwiatkowski, Jérôme de Sèze, Alain Créange, Nathalie Texier, Sophie Fantoni-Quinton, Marilyn Gros, Marta Ruiz, Christine Lebrun-Frenay","doi":"10.1007/s40120-025-00725-x","DOIUrl":"10.1007/s40120-025-00725-x","url":null,"abstract":"<p><strong>Introduction: </strong>The TITAN study examined changes in productivity, ability to work, and quality of life (QoL) before and after treatment with the high-efficacy therapy natalizumab (TYSABRI^®) in patients with multiple sclerosis (MS) in France.</p><p><strong>Methods: </strong>Patients, aged ≥ 18 and < 65 years with relapsing-remitting MS, either naïve to natalizumab or with ≤ 1 prior natalizumab infusion, with paid employment, were evaluated for productivity (number of working hours) in the 12 months prior to and after natalizumab initiation. Changes in annualized relapse rate and Expanded Disability Status Scale (EDSS) score were assessed. Changes in work status, working ability, physical and psychologic functioning, and QoL were also evaluated.</p><p><strong>Results: </strong>Of 185 enrolled patients, the primary analysis population comprised 162 patients with a mean (SD) age of 36.8 (9.6) years and a baseline mean (SD) EDSS score of 1.9 (1.4). Annual mean (SD) productivity (n = 160) decreased from 1284.4 (503.3) h before natalizumab to 1208.0 (575.3) h (p = 0.05) in the year after natalizumab initiation. Significant improvement was seen in overall activity impairment at 6, 12, and 18 months of natalizumab treatment (p < 0.001). Decreases in annualized relapse rate (p < 0.0001) and EDSS score (p < 0.05) were observed during this period. In addition, treatment-related improvements were observed in presenteeism (reduced work efficiency), overall work impairment, and absenteeism (p < 0.05); significant improvements in psychological and physical impact (p ≤ 0.01) of MS were reported.</p><p><strong>Conclusions: </strong>These findings suggest that early treatment with natalizumab may improve the work function of patients with MS, thereby decreasing the economic burden of the disease and improving patient quality of life.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"895-909"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors Influencing the Response of Patients with Infantile Epileptic Spasms Syndrome to ACTH as Repeated First-Line Therapy.","authors":"Wenrong Ge, Ping Pang, Ziyan Zhang, Lin Wan, Guang Yang","doi":"10.1007/s40120-025-00722-0","DOIUrl":"10.1007/s40120-025-00722-0","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;The treatment of infantile epileptic spasms syndrome (IESS) aims to achieve spasm control. Current first-line interventions include hormone therapy (adrenocorticotropic hormone [ACTH] and corticosteroids) and vigabatrin. Despite treatment, the response rate remains at around 40%, with some infants experiencing relapse after achieving initial spasm control. In certain cases, a second course of first-line therapy may be warranted. The objective of this study was to perform a secondary analysis of data from our previously published studies to elucidate factors influencing the efficacy of ACTH following its re-administration after the lack of response to the initial first-line treatment or relapse.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We conducted a retrospective analysis of clinical data from children with IESS who had experienced treatment failure or relapse following initial first-line therapy and who subsequently received ACTH at our institution as a second first-line treatment. We examined such variables as etiological classification, interval between treatments, age at first epileptic seizure, radiological findings, and changes in pharmacological treatment modalities, with the overall aim to assess the impact of these variables on the short-term response (disappearance of spasms for &gt; 4 weeks and without hypsarrhythmia pattern) to the second administration of the first-line therapy.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Among the 128 patients with IESS identified and included in the analysis, 50 (39.1%) achieved a short-term response. Comparative analysis indicated that responders had a shorter duration between the initial first-line therapy and the initiation of the second first-line treatment (median 1.00 [interquartile range {IQR} 0.00, 2.00] vs. 1.75 [IQR 0.50, 3.88] months), were younger at the time of the second first-line treatment (median 11 [IQR 8, 17] vs. 16 [IQR 10, 24] months, p = 0.008), and were less likely to present with additional seizure types during spasm episodes (12.0% vs. 28.2%, p = 0.030). A multifactorial regression model indicated that older age at first seizure and a short-term response to initial first-line treatment were associated with a higher likelihood of obtaining an initial response in the subsequent ACTH treatment (odds ratio [OR] 2.69, 95% confidence interval [CI] 1.39, 7.23, p = 0.014 and OR 5.41, 95% CI 1.48, 23.90, p = 0.016, respectively). Conversely, an older age at the time of the initial first-line treatment, an older age at the onset of epileptic spasms, and patients with congenital structural abnormalities without genetic abnormalities were less likely to achieve an initial response in subsequent ACTH treatment (OR 0.85, 95% CI 0.78, 0.92, p &lt; 0.001; OR 0.43, 95% CI 0.16, 0.82, p = 0.032; and OR 0.18, 95% CI 0.04, 0.69, p = 0.016, respectively)..&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;A second ACTH therapy regimen (second first-line treatment) may help some children with IESS who d","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"759-774"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Cognivue Amyloid Risk Measure (CARM): A Novel Method to Predict the Presence of Amyloid with Cognivue Clarity.","authors":"James E Galvin, Michael J Kleiman, Heather M Harris, Paul W Estes","doi":"10.1007/s40120-025-00741-x","DOIUrl":"10.1007/s40120-025-00741-x","url":null,"abstract":"<p><strong>Introduction: </strong>At the present time, clinical detection of individuals who have amyloid in their brain is not possible without expensive biomarkers. The objective of the study was to test whether Cognivue Clarity^® can differentiate True Controls, preclinical Alzheimer's disease (pAD), mild cognitive impairment (MCI) due to Alzheimer's disease (MCI-AD), AD, and MCI and dementia due to non-AD etiologies enrolled in the Bio-Hermes Study.</p><p><strong>Methods: </strong>A total of 887 individuals completed Cognivue Clarity, amyloid PET scan, and blood-based AD biomarkers. Three Cognivue Clarity subtests differentiated between True Controls and pAD, and between cognitive impairment due to AD versus non-AD processes. This finding was leveraged to develop an amyloid-specific marker, combining the three subtests with age using machine learning to create the 4-point Cognivue Amyloid Risk Measure (CARM).</p><p><strong>Results: </strong>Cognivue Clarity discriminated cognitively normal from cognitively impaired individuals (p < 0.001, Cohen's d = 0.732). The CARM differentiated between individuals with amyloid and without amyloid by PET (p < 0.001, Cohen's d = 0.618) and blood-based biomarkers (p's < 0.001). Amyloid positivity and cognitive impairment increased across four CARM thresholds (p < 0.001). Dichotomizing CARM thresholds into low (CARM1/CARM2) and high (CARM3/CARM4) likelihood provided excellent discrimination for amyloid PET positivity (OR: 3.67; 95% CI 2.76-4.89). CARM categories differentiated between True Controls, pAD, MCI-AD, AD, and cognitive impairment due to non-AD etiologies (χ² = 137.6, p < 0.001) with the majority of True Controls and non-AD etiologies being in CARM1/CARM2, and the majority of pAD, MCI-AD, and AD being in CARM3/CARM4.</p><p><strong>Conclusions: </strong>Cognivue Clarity detects individuals with cognitive impairment, and a derivation benchmarked against amyloid PET was used to develop the CARM to predict the presence of amyloid. Combining the CARM and the Cognivue Clarity overall score could help identify individuals with and without cognitive impairment due to AD or non-AD etiologies, help screen for treatment protocols with anti-amyloid therapies, enrich clinical trial recruitment, and help to identify pAD for prevention studies.</p><p><strong>Trial registration: </strong>ClinicalTrials. gov identifier, NCT04733989.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"865-880"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and Prevalence of Juvenile Myasthenia Gravis in the United States Between 2010 and 2020: Analysis of Two Claims Databases.","authors":"Jiachen Zhou, Anna Kuba, Sigrid Nilius, Olga Pilipczuk, Thaïs Tarancón, Frank Tennigkeit","doi":"10.1007/s40120-025-00750-w","DOIUrl":"10.1007/s40120-025-00750-w","url":null,"abstract":"<p><strong>Introduction: </strong>Few published population-based studies report the incidence or prevalence of juvenile myasthenia gravis (JMG) due to the rarity of the disorder. Despite recent progress in new targeted treatments and ongoing developments, there remains a critical need for novel and effective therapies specifically for JMG. Most treatments used for JMG are only approved for adult patients with MG. Thus, a thorough evaluation and understanding of the basic epidemiology of JMG is needed.</p><p><strong>Methods: </strong>We conducted a population-based retrospective study to estimate the annual incidence and prevalence of JMG in the US from 2010 to 2020 by analyzing the Merative™ MarketScan^® Commercial Claims and Encounters Database (CCAE) and Multi-State Medicaid Database (MDCD).</p><p><strong>Results: </strong>The incidence of JMG in 2020 was 5.9 [95% confidence interval (CI) 3.3-9.7] per million person-years in CCAE and 8.7 (95% CI 6.0-12.3) per million person-years in MDCD, with considerable variation across the study period. The prevalence of diagnosed JMG remained fairly consistent, with 25.3 (95% CI 19.9-32.2) per million population in CCAE and 37.6 (95% CI 31.9-44.4) per million population in MDCD in 2020. Both databases consistently showed higher incidence and prevalence among girls compared with boys. No clear pattern was observed in incidence by age of onset over the study period, whereas prevalence generally increased with age. Both incidence and prevalence by age of onset were higher in MDCD than CCAE. Furthermore, higher incidence and prevalence were observed among Black population compared with White population. Overall, no obvious increasing or decreasing trend was observed during the study period.</p><p><strong>Conclusion: </strong>The incidence and prevalence of JMG in the US, previously understudied, may be higher than earlier research suggested, possibly due to limited research into the epidemiology of JMG. This finding implies that the actual burden of JMG could be greater than previously estimated.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"1093-1103"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Monthly Headaches and Severity in Patients on Galcanezumab or Traditional Preventive Migraine Medication: A 24-Month Claims and Electronic Health Records Study.","authors":"Oralee J Varnado, Michelle Vu, Gilwan Kim, Margaret Hoyt, Erin Buysman, Abhinav Nayyar, Shikha Anand, Lars Viktrup","doi":"10.1007/s40120-025-00742-w","DOIUrl":"10.1007/s40120-025-00742-w","url":null,"abstract":"<p><strong>Introduction: </strong>Migraine, affecting millions globally, imposes a significant burden on patients and healthcare systems. Calcitonin gene-related peptide monoclonal antibodies are recommended as first-line preventive treatments by international guidelines, yet real-world prospective studies comparing their year-long effectiveness to standard of care (SOC) treatments are time-consuming, resource-intense and therefore limited. This study aimed to test the utility of claims data and electronic health records (EHR) by evaluating changes in monthly headache days (MHDs) and disease severity among US patients with migraine receiving galcanezumab versus traditional standard-of-care preventive migraine medications.</p><p><strong>Methods: </strong>A real-world study was conducted using Optum data from US administrative claims and EHR of patients diagnosed with migraine and receiving galcanezumab or SOC. Changes in MHDs over a 24-month follow-up were converted from changes in acute medication using the Pharmacy Quality Alliance (PQA) measure for Migraine Preventive Therapy, and migraine severity was assessed using EHR free text. Data were analyzed using two-sample t-test, chi-square and Fisher exact tests.</p><p><strong>Results: </strong>Of 63,939 patients with eligible claims, 28,264 (44.2%) had notes in EHR; of those, 227 and 65 patients had information for migraine severity and headache days, respectively. Patients receiving galcanezumab showed significant improvement in MHDs compared to the SOC cohort when assessed using PQA measures (mean [SD] change from baseline to follow-up, - 0.18 [4.76] vs 0.15 [3.85]; p < 0.001). A significantly greater proportion of patients treated with galcanezumab exhibited a 50% reduction (25.9% vs 16.7%; p < 0.001) and 75% reduction (15.7% vs 11.6%; p < 0.001) in MHDs than the standard-of-care cohort. Mean change in migraine severity and MHDs was not determined by EHR because of low sample sizes.</p><p><strong>Conclusion: </strong>In this exploration of multiple data sources and methodologies, changes in MHDs over 24 months were small in patients treated with galcanezumab or SOC. While real-world data from administrative claims and EHR provided insights, limitations such as small sample sizes for migraine severity data and challenges in extracting clinical outcomes underscore the need for further research.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"911-925"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor Regarding: Quantitative Analysis of White Matter Hyperintensities as a Predictor of 1‑Year Risk for Ischemic Stroke Recurrence.","authors":"E Zhao, Zhengting Duan, Jingmei Li","doi":"10.1007/s40120-025-00718-w","DOIUrl":"10.1007/s40120-025-00718-w","url":null,"abstract":"","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"1151-1153"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to Letter to the Editor Regarding: Quantitative Analysis of White Matter Hyperintensities as a Predictor of 1-Year Risk for Ischemic Stroke Recurrence.","authors":"Yi Sun, Hao Wang","doi":"10.1007/s40120-025-00719-9","DOIUrl":"10.1007/s40120-025-00719-9","url":null,"abstract":"","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"1155-1156"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal Treatment Patterns of Chorea in North American Patients with Huntington's Disease: Data from Enroll-HD.","authors":"Erin Furr Stimming, Daniel O Claassen, Ginny P Sen, Olga Klepitskaya, Michael Serbin, Hyunwoo Kim, Sean C Hinton, Dietrich Haubenberger","doi":"10.1007/s40120-024-00703-9","DOIUrl":"10.1007/s40120-024-00703-9","url":null,"abstract":"<p><strong>Introduction: </strong>Chorea is the primary manifestation of Huntington's disease. Different clinicians pursue varied approaches to chorea management, and real-world evidence describing them is needed. The objective of this study was to assess the presence and severity of chorea, chorea pharmacotherapy, and treatment practice, and patterns in a large natural-history cohort with Huntington's disease.</p><p><strong>Methods: </strong>The Enroll-HD research platform Periodic Dataset 5.0 was used to select subjects. Outcomes included demographics, disease-related baseline characteristics (Primary Analysis Set), and treatment patterns (Treatment Analysis Set).</p><p><strong>Results: </strong>A total of 2590 manifest participants comprised the Primary Analysis Set with 1040 in the Treatment Analysis Set; 96.8% of participants had chorea. Mean Unified Huntington's Disease Rating Scale scores for Total Maximal Chorea, Total Motor Score, and Total Functional Capacity were 9.6, 39.5, and 7.8, respectively. During the observation period from June 2012 to October 2020, 906 (36.1%) participants received treatment for chorea. Among these, the most common first-line therapies were monotherapy VMAT2 inhibitors (49.9%) and antipsychotics (27.7%), while 7.8% of participants discontinued first-line therapy. Of those receiving VMAT2 inhibitors or antipsychotics as first line, 92% and 84%, respectively, remained on VMAT2 inhibitors or antipsychotics alone or in combination for the duration of the study. The most common second-line treatment was combination therapy.</p><p><strong>Conclusions: </strong>Only 36.1% of participants with chorea were taking a medication indicated for chorea, and, while 49.9% of treated participants received VMAT2 inhibitors first-line, approximately half were prescribed off-label alternatives. It is unclear why patients with indications for treatment were untreated or why off-label alternatives were prescribed. Future research should elaborate on these observations.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"743-756"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Menopause, Perimenopause, and Migraine: Understanding the Intersections and Implications for Treatment.","authors":"Marta Waliszewska-Prosół, Giovanni Grandi, Raffaele Ornello, Bianca Raffaelli, Marcin Straburzyński, Claudio Tana, Paolo Martelletti","doi":"10.1007/s40120-025-00720-2","DOIUrl":"10.1007/s40120-025-00720-2","url":null,"abstract":"<p><p>Migraine affects women three times more often than it does men, and various mechanisms may explain this incidence, including the key role of female sex hormones. Fluctuations in the levels of these hormones and their feedback control regulate the menstrual cycle, pregnancy, puerperium, perimenopause, and menopause. They can influence the occurrence and severity of migraine throughout the reproductive period. Of particular importance seems to be the perimenopausal period, which is associated with an increase in migraine, especially menstrual migraine, which is considered more disabling and less amenable to treatment than non-menstrual attacks. This article reviews the available evidence documenting the relationship between perimenopause, menopause, and migraine and diagnostic considerations in an attempt to determine the management of these periods of a woman's life. Special considerations, future directions, and unmet needs for perimenopausal and menopausal migraine are also discussed.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"665-680"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sudoscan in ATTRv Amyloidosis: A Potential Marker of Disease Progression?","authors":"Angela Romano, Valeria Guglielmino, Francesca Vitali, Maria Ausilia Sciarrone, Giovanni Siconolfi, Andrea Di Paolantonio, Guido Primiano, Marco Luigetti","doi":"10.1007/s40120-025-00721-1","DOIUrl":"10.1007/s40120-025-00721-1","url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a severe, autosomal dominant disease resulting from multisystemic extracellular deposition of amyloid fibrils, leading to progressive organ damage and death. Sudoscan is a reproducible tool investigating sweat gland function and, indirectly, small nerve fiber impairment. The aim of this study was to evaluate any changes over time in electrochemical skin conductance (ESC) measured by Sudoscan in a cohort of late-onset patients with ATTRv from a single Italian center. Additionally, we investigated the role of Sudoscan as a marker of disease severity to confirm previous literature data.</p><p><strong>Methods: </strong>We enrolled 61 patients with a late-onset ATTRv amyloidosis harboring different TTR variants with at least one clinical and instrumental evaluation including Sudoscan. Correlations with clinical data (including both clinical scales and questionnaires) were investigated to confirm the role of Sudoscan as a marker of disease severity. Moreover, a longitudinal analysis was performed in the subgroup of patients with at least 4 complete yearly evaluations (n = 23) to assess the role of Sudoscan as a marker of disease progression.</p><p><strong>Results: </strong>At each yearly assessment, ESC values from both feet and hands significantly correlated with disease duration and neuropathy severity, as assessed by common clinical scales and questionnaires. No correlation was found with age at evaluation. Moreover, we observed a statistically significant change over time in ESC values measured at the feet (fESC) but not at the hands (hESC).</p><p><strong>Conclusions: </strong>Sudoscan may represent a reliable marker of dysautonomia in ATTRv amyloidosis, displaying a potential role as a marker of both disease severity and progression. It could, therefore, serve as an outcome measure in future clinical trials. In addition, feet ESC seems to be a significant, independent predictor of autonomic dysfunction.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"787-800"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}