Marius Butz, Tibo Gerriets, Gebhard Sammer, Jasmin El-Shazly, Tobias Braun, Laura Sünner, Rolf Meyer, Marlene Tschernatsch, Patrick Schramm, Stefan T Gerner, Thorsten R Doeppner, Thomas Mengden, Yeong-Hoon Choi, Markus Schoenburg, Martin Juenemann
{"title":"The impact of white matter lesions and subclinical cerebral ischemia on postoperative cognitive training outcomes after heart valve surgery: A randomized clinical trial.","authors":"Marius Butz, Tibo Gerriets, Gebhard Sammer, Jasmin El-Shazly, Tobias Braun, Laura Sünner, Rolf Meyer, Marlene Tschernatsch, Patrick Schramm, Stefan T Gerner, Thorsten R Doeppner, Thomas Mengden, Yeong-Hoon Choi, Markus Schoenburg, Martin Juenemann","doi":"10.1016/j.jns.2024.123370","DOIUrl":"https://doi.org/10.1016/j.jns.2024.123370","url":null,"abstract":"<p><strong>Background: </strong>White matter lesions and subclinical cerebral ischemia (SCI) are described as risk factors for postoperative cognitive decline (POCD) following cardiac surgery. This report aims to investigate the effect of brain lesions on postoperative cognitive training outcomes.</p><p><strong>Methods: </strong>In a randomized, treatment-as-usual controlled trial, elderly patients scheduled for elective heart valve surgery participated. The postoperative cognitive training comprised paper-and-pencil exercises. Neuropsychological parameters were assessed preoperatively, at discharge from rehabilitation (immediately post-training), and at the 3-month follow-up. In addition, depression and anxiety (HADS) as well as health-related quality of life (SF-36) were evaluated. Brain lesions were identified using magnetic resonance imaging (training group: n = 18; control group: n = 21). Specifically, periventricular white matter lesions (PVWML) and deep white matter lesions (DWML) were assessed using T2-weighted/FLAIR sequences and categorized according to Fazekas scale. Volumetric analysis of SCI was conducted using diffusion-weighted imaging. To statistically control the impact of brain lesions on training outcomes, we employed analysis of covariance.</p><p><strong>Results: </strong>Three-month follow-up results: When controlling for the independence of SCI on training outcomes, effects were evident for global cognition (p = 0.022) and SF-36 mental component summary (p = 0.003). Considering the impact of PVWML on training outcomes, trained participants showed better values in depression (p = 0.046) and SF-36 mental component summary (p = 0.013). In a subgroup analysis for patients with PVWML the training group demonstrated superior performance for language (p = 0.037). After adjusting for DWML, training effects were noticeable in the SF-36 mental component summary (p = 0.013).</p><p><strong>Conclusion: </strong>Patients with brain lesions may benefit from cognitive training after cardiac surgery.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"469 ","pages":"123370"},"PeriodicalIF":3.6,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ryan Zhou, Kamala Sangam, Ana Cabrera, Fatimah AlMutawa, Aida Sivro, Felicia Roy, Michael Silverman, Manas Sharma, Adrian Budhram
{"title":"Diagnosing progressive multifocal leukoencephalopathy: Positive predictive value of CSF JC virus quantitative PCR and importance of recognizing suggestive neuroimaging findings.","authors":"Ryan Zhou, Kamala Sangam, Ana Cabrera, Fatimah AlMutawa, Aida Sivro, Felicia Roy, Michael Silverman, Manas Sharma, Adrian Budhram","doi":"10.1016/j.jns.2024.123379","DOIUrl":"https://doi.org/10.1016/j.jns.2024.123379","url":null,"abstract":"<p><strong>Objective: </strong>To determine the positive predictive value (PPV) of CSF John Cunningham virus (JCV) quantitative PCR (qPCR) for progressive multifocal leukoencephalopathy (PML), and highlight neuroimaging findings reported to be suggestive of this disease.</p><p><strong>Methods: </strong>We reviewed patients at London Health Sciences Centre with a positive CSF JCV qPCR result. Patients were classified as true-positive if they had a clinico-radiographic presentation compatible with PML and no more likely alternative diagnosis. The presence of suggestive neuroimaging findings was documented as supportive evidence of PML. The PPV of CSF JCV qPCR was calculated as the proportion of positive results that were classified as true-positives.</p><p><strong>Results: </strong>Eleven of 154 patients who underwent CSF JCV qPCR testing had a positive result (7 %). Median age was 60 years (range: 33-79 years) and 7/11 (64 %) were male. Nine of 11 (82 %) were overtly immunocompromised. Five of 11 (45 %) had a viral load below the lowest quantifiable standard (<4290 copies/ml). All had a clinico-radiographic presentation compatible with PML and no more likely alternative diagnosis, resulting in a PPV of 100 %. All had one or more suggestive neuroimaging findings that supported PML diagnosis (Milky Way sign/punctate pattern, 9; rim-and-core pattern, 7; T2/FLAIR mismatch, 6; shrimp sign, 4; SWI-hypointense rim, 2; across-the-pons sign, 1; barbell sign, 1).</p><p><strong>Conclusions: </strong>We found that CSF JCV qPCR had high PPV for PML. All positives below the lowest quantifiable standard were true-positives. Our study affirms the diagnostic utility of this testing in clinical practice. Recognition of suggestive neuroimaging findings helps facilitate PML diagnosis.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"469 ","pages":"123379"},"PeriodicalIF":3.6,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antonio Ciacciarelli, Anne Falcou, Ettore Nicolini, Aldobrando Broccolini, Giovanni Frisullo, Serena Abruzzese, Irene Scala, Sabrina Anticoli, Elisa Testani, Ennio Montinaro, Cristina Ranchicchio, Manuela De Michele, Danilo Toni
{"title":"The prognostic role of iron deficiency in acute ischemic stroke patients: A prospective multicentric cohort study.","authors":"Antonio Ciacciarelli, Anne Falcou, Ettore Nicolini, Aldobrando Broccolini, Giovanni Frisullo, Serena Abruzzese, Irene Scala, Sabrina Anticoli, Elisa Testani, Ennio Montinaro, Cristina Ranchicchio, Manuela De Michele, Danilo Toni","doi":"10.1016/j.jns.2024.123371","DOIUrl":"https://doi.org/10.1016/j.jns.2024.123371","url":null,"abstract":"<p><strong>Background and aims: </strong>Iron deficiency (ID) is a prognostic factor in heart failure and acute coronary syndrome. However, its role in cerebrovascular diseases is controversial. We aimed to determine the impact of ID on the functional outcome of acute ischemic stroke patients.</p><p><strong>Methods: </strong>This was an observational prospective multicentric cohort study. From January to December 2023, we enrolled acute ischemic stroke patients admitted to the stroke units of four comprehensive stroke centers. Venous blood samples were collected at admission to determine the iron status (serum iron, ferritin, transferrin). ID was defined as a serum ferritin concentration < 100 ng/mL or 100-299 ng/mL with transferrin saturation (TSAT) <20 %. The primary endpoint was the poor functional outcome at 90 days defined as modified Rankin Scale (mRS) 3-6. We used binary logistic regression models including confounding factors to test the association between ID and the primary outcome.</p><p><strong>Results: </strong>The analysis included 442 patients (mean age 73 ± 13, 47.5 % female, median NIHSS 7 [IQR 3-15], 61.3 % treated with intravenous thrombolysis and/or endovascular treatment). ID prevalence was 65.6 %. In all binary logistic regression models, ID predicted poor functional outcome at 3 months irrespective from demographics, stroke severity and characteristics, anemia, risk factors, signs/symptoms of heart failure, glucose at admission, and inflammatory biomarkers (aOR 2.328, 95 % CI 1.272-4.263, p = 0.006).</p><p><strong>Conclusions: </strong>ID was strongly associated with poor functional outcome at 90 days in acute ischemic stroke patients. Further research is required to explore whether iron supplementation could be a potential therapeutic strategy to improve patient outcomes.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"469 ","pages":"123371"},"PeriodicalIF":3.6,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Should antinuclear antibodies (ANA) be used to screen for connective tissue disease in neurological patients?","authors":"Erez Magiel, Yuval Kozlov, Tomer Goldberg, Roni Loebenstein, Abdualla Watad, Omer Gendelman, Saar Anis","doi":"10.1016/j.jns.2024.123374","DOIUrl":"https://doi.org/10.1016/j.jns.2024.123374","url":null,"abstract":"<p><strong>Background: </strong>Patients with connective tissue diseases (CTD) can have a wide range of neurological manifestations. Neurological complaints may be the presenting symptom of CTD. Therefore, screening for CTD using anti-nuclear antibodies (ANA) is a common practice. However, due to the abundance of positive ANA in a healthy population, interpretation of the results may be complex.</p><p><strong>Methods: </strong>we retrospectively evaluated files of patients hospitalized for evaluation of neurological symptoms in Sheba Medical Center during the years 2007-2022. Data was collected regarding epidemiology, ANA status, and rheumatological diagnosis.</p><p><strong>Results: </strong>4723 patients' files were reviewed. Of them, 46.6 % were positive for ANA. 6.9 % of them were diagnosed with CTD. This population had significantly higher rates of positive ANA status (71.2 % vs 28.8 %, p < 0.001), was significantly older (59.4 vs 53.4 years, p < 0.001) and had a significantly higher ANA titer (1:484.8, 1:268 p < 0.001) compared to patients without CTD. Factors which were found predictive for CTD diagnosis included female gender, older age, ANA titer above 1:160, and the diagnosis of a non-vascular etiology for the neurological disease.</p><p><strong>Conclusion: </strong>Females, older patients, patients with high ANA titer and with diagnosis of a non-vascular cause to their neurological complains may be more likely to harbor a CTD and should probably be further evaluated.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"469 ","pages":"123374"},"PeriodicalIF":3.6,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Basel Musmar, Joanna M Roy, Atakan Orscelik, Sravanthi Koduri, Spyridon Karadimas, Saman Sizdahkhani, Elias Atallah, Stavropoula I Tjoumakaris, Michael Reid Gooch, Hekmat Zarzour, Ritam Ghosh, Richard F Schmidt, Robert H Rosenwasser, Pascal Jabbour
{"title":"Comparative outcomes of endovascular vs. surgical treatment in craniocervical junction dural arteriovenous fistulas: A systematic review and meta-analysis.","authors":"Basel Musmar, Joanna M Roy, Atakan Orscelik, Sravanthi Koduri, Spyridon Karadimas, Saman Sizdahkhani, Elias Atallah, Stavropoula I Tjoumakaris, Michael Reid Gooch, Hekmat Zarzour, Ritam Ghosh, Richard F Schmidt, Robert H Rosenwasser, Pascal Jabbour","doi":"10.1016/j.jns.2025.123402","DOIUrl":"https://doi.org/10.1016/j.jns.2025.123402","url":null,"abstract":"<p><strong>Background: </strong>Craniocervical junction dural arteriovenous fistulas (CCJ-DAVFs) are rare and complex vascular malformations that are challenging to diagnose and treat. This study aims to compare surgical and endovascular treatments for CCJ-DAVFs through a systematic review and meta-analysis.</p><p><strong>Methods: </strong>A systematic review and meta-analysis was conducted according to the PRISMA guidelines. PubMed, Scopus, and Web of Science databases were searched from inception to July 2024.</p><p><strong>Results: </strong>Fifteen studies involving 266 patients were included. Of these, 143 (53.8 %) patients underwent surgical treatment alone and 123 (46.2 %) underwent endovascular treatment alone. In the surgical group, the complete obliteration rate at last follow-up was 89.8 %. Retreatment rate was 6.2 %. Periprocedural complications occurred in 21.6 % of cases. In the endovascular group, the complete occlusion rate at last follow-up was 73.6 %. Retreatment rate was 46.7 %. Periprocedural complications occurred in 18.8 % of cases. Comparative meta-analysis revealed that the rate of complete obliteration at last follow-up was significantly higher in the surgical group (OR: 0.24; CI: 0.07 to 0.89, p = 0.03). Surgical treatment had a significantly higher successful treatment rate (OR: 0.24; CI: 0.07 to 0.89, p = 0.03) and lower retreatment rate (OR: 37.13; CI: 6.31 to 218.59, p < 0.01). No significant differences were observed between the groups in terms of periprocedural complications or complete resolution of symptoms.</p><p><strong>Conclusion: </strong>Surgical treatment for CCJ-DAVFs achieves higher rates of complete obliteration with lower retreatment rates compared to endovascular treatment. However, endovascular treatment showed a tendency towards reducing periprocedural complications while increasing the likelihood of complete resolution of symptoms. Individualized treatment plans for CCJ-DAVFs, should be considered according to their anatomical location and potential surgical accessibility. Further studies are required to confirm these findings.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"470 ","pages":"123402"},"PeriodicalIF":3.6,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antonio Lauletta, Yves Allenbach, Anthony Béhin, Teresinha Evangelista, Sarah Léonard-Louis, Matteo Garibaldi, Olivier Benveniste
{"title":"High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay?","authors":"Antonio Lauletta, Yves Allenbach, Anthony Béhin, Teresinha Evangelista, Sarah Léonard-Louis, Matteo Garibaldi, Olivier Benveniste","doi":"10.1016/j.jns.2025.123400","DOIUrl":"https://doi.org/10.1016/j.jns.2025.123400","url":null,"abstract":"<p><strong>Introduction: </strong>Certain types of muscular dystrophy (MD), notably facioscapulohumeral muscular dystrophy (FSHD), exhibit muscle fiber necrosis with regeneration and a nonspecific inflammatory process. Although rare, the coexistence of MDs and autoimmune myositis has been observed. We hypothesized that, in some circumstances, FSHD may predispose individuals to myositis through muscle damage-induced autoantigen overexpression, contributing to an autoimmune response.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of patient data from neuromuscular disease centers in France and Italy between September 2012 and May 2024. Clinical, immunological, and myopathological features of 1750 myositis patients were comprehensively reviewed.</p><p><strong>Results: </strong>Five patients were identified with both FSHD and IIM. Two patients were first diagnosed with FSHD and later developed IIM, while two others initially had IIM followed by an FSHD diagnosis. The fifth patient received simultaneous diagnoses of both conditions. The prevalence of FSHD in the IIM cohort was 1/350, and the prevalence of IIM in the FSHD cohort was 1/40 (p < 0.0001).</p><p><strong>Discussion: </strong>Our study showed a high prevalence of FSHD and IIM association compared to the general population, with underlying mechanisms that remain unclear. This association might be more frequent than previously reported, indicating a need for increased clinical awareness. Understanding the interplay between FSHD and autoimmune myositis could reveal insights into the immunopathological processes of these diseases and improve diagnostic and therapeutic approaches.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"470 ","pages":"123400"},"PeriodicalIF":3.6,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143039676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Veronica Faltracco, Debora Pain, Eleonora Dalla Bella, Nilo Riva, Alessandra Telesca, Elisabetta Soldini, Giulia Gandini, Alice Radici, Barbara Poletti, Giuseppe Lauria, Monica Consonni
{"title":"Mood disorders in patients with motor neuron disease and frontotemporal symptoms: Validation of the Hospital Anxiety and Depression Scale for use in motor neuron disease.","authors":"Veronica Faltracco, Debora Pain, Eleonora Dalla Bella, Nilo Riva, Alessandra Telesca, Elisabetta Soldini, Giulia Gandini, Alice Radici, Barbara Poletti, Giuseppe Lauria, Monica Consonni","doi":"10.1016/j.jns.2024.123378","DOIUrl":"https://doi.org/10.1016/j.jns.2024.123378","url":null,"abstract":"<p><strong>Background: </strong>Motor neuron disease (MND) is a heterogeneous neurodegenerative disorder, with nearly 50 % of patients exhibiting cognitive and behavioral symptoms in addition to motor decline. Anxiety and depression, though frequently observed in this population, have been understudied in relation to motor and extra-motor profiles.</p><p><strong>Objectives: </strong>Our study addresses this gap by validating the Hospital Anxiety and Depression Scale for Motor Neuron Disease (HADS-MND) and investigating the interplay between mood, clincial, and frontotemporal symptoms in a large sample of MND patients.</p><p><strong>Methods: </strong>A total of 249 MND patients underwent clinical, genetic, and neuropsychological assessments. The validity, reliability, sensitivity, and specificity of the HADS-MND global score and subscores were explored. Correlation analyses and group comparisons tested the link between mood, motor and extra-motor profiles.</p><p><strong>Results: </strong>The bidirectional structure of the HADS-MND was confirmed, but receiver operating characteristics analysis suggests caution for clinical use of the anxiety and depression subscales. The global HADS-MND score is recommended as a measure of psychological distress, with a cut-off point of 10 detecting 38 % of patients with altered scores. Moderate symptoms of anxiety and depression were present in 14 % and 11 % of cases, respectively. Depressive mood was higher in women, patients with frontotemporal symptoms, and severe motor-functional disabilities. Depressive and/or anxiety symptoms were linked to loneliness, behavioral changes, emotional dysregulation, and poor quality of life. Cognitive efficiency was not associated with mood.</p><p><strong>Conclusion: </strong>Mood disorders appeared independent of cognitive profiles but related to behavioral changes. This is particularly relevant for clinicians discussing end-of-life decisions with patients.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"469 ","pages":"123378"},"PeriodicalIF":3.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maria Moschou, Vasiliki Poulidou, Eleni Liouta, Georgia Pepe, Vasileios K Kimiskidis, Marianthi Arnaoutoglou
{"title":"Charcot-Marie-tooth disease type 1 phenotype in a family with a novel myelin protein zero variant.","authors":"Maria Moschou, Vasiliki Poulidou, Eleni Liouta, Georgia Pepe, Vasileios K Kimiskidis, Marianthi Arnaoutoglou","doi":"10.1016/j.jns.2025.123396","DOIUrl":"https://doi.org/10.1016/j.jns.2025.123396","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"469 ","pages":"123396"},"PeriodicalIF":3.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Peter S Spencer, Shala-Ghaderi Berntsson, Alain Buguet, Patricia Butterfield, Donald B Calne, Susan M Calne, Santiago Giménez-Roldán, Jacques Hugon, Sahiba Kahlon, Glen E Kisby, Emmeline Lagrange, Anne-Marie E Landtblom, Albert C Ludolph, Peter B Nunn, Valerie S Palmer, Jacques Reis, Gustavo C Román, Jussi O T Sipilä, Scott S Spencer, Raquel Valdes Angues, Jean-Paul Vernoux, Momoko Yabushita
{"title":"Brain health: Pathway to primary prevention of neurodegenerative disorders of environmental origin.","authors":"Peter S Spencer, Shala-Ghaderi Berntsson, Alain Buguet, Patricia Butterfield, Donald B Calne, Susan M Calne, Santiago Giménez-Roldán, Jacques Hugon, Sahiba Kahlon, Glen E Kisby, Emmeline Lagrange, Anne-Marie E Landtblom, Albert C Ludolph, Peter B Nunn, Valerie S Palmer, Jacques Reis, Gustavo C Román, Jussi O T Sipilä, Scott S Spencer, Raquel Valdes Angues, Jean-Paul Vernoux, Momoko Yabushita","doi":"10.1016/j.jns.2024.123340","DOIUrl":"10.1016/j.jns.2024.123340","url":null,"abstract":"<p><p>While rising global rates of neurodegenerative disease encourage early diagnosis and therapeutic intervention to block clinical expression (secondary prevention), a more powerful approach is to identify and remove environmental factors that trigger long-latencybrain disease (primary prevention) by acting on a susceptible genotype or acting alone. The latter is illustrated by the post-World War II decline and disappearance of Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex (ALS/PDC), a prototypical often-familial neurodegenerative disease formerly present in very high incidence on the island of Guam. Lessons learned from 75 years of investigation on the etiology of ALS/PDC include: the importance of focusing field research on the disease epicenter and patients with early-onset disease; soliciting exposure history from patients, family, and community to guide multidisciplinary biomedical investigation; recognition that disease phenotype may vary with exposure history, and that familial brain disease may have a primarily environmental origin. Furthermore, removal from exposure to the environmental trigger effects primary disease prevention.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"468 ","pages":"123340"},"PeriodicalIF":3.6,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abhimanyu Mahajan, Kevin R Duque, Alok K Dwivedi, Jesus Abanto, Luca Marsili, Emily J Hill, Ameya Saraf, Kelsey J McDonald, Adebukunola Arowosegbe, Heba A Deraz, Aaron Bloemer, Alberto J Espay
{"title":"Exploring the intersection between orthostatic hypotension and daytime sleepiness in Parkinson's disease.","authors":"Abhimanyu Mahajan, Kevin R Duque, Alok K Dwivedi, Jesus Abanto, Luca Marsili, Emily J Hill, Ameya Saraf, Kelsey J McDonald, Adebukunola Arowosegbe, Heba A Deraz, Aaron Bloemer, Alberto J Espay","doi":"10.1016/j.jns.2024.123366","DOIUrl":"10.1016/j.jns.2024.123366","url":null,"abstract":"<p><strong>Introduction: </strong>Daytime sleepiness, reported in about 50 % of patients with Parkinson's disease (PD), is associated with high morbidity, poor quality of life and increased risk for accidents. While an association between dysautonomia and daytime sleepiness in early, de-novo PD has been reported, our understanding of the role of medications, cognitive status and co-morbidites on this relationship is inadequate.</p><p><strong>Methods: </strong>Data were analyzed from the prospective Cincinnati Cohort Biomarkers Program. The primary outcome of interest was excessive daytime sleepiness (EDS), as measured by the Epworth Sleepiness Scale (ESS; ESS score > 10). The primary exposure variable was orthostatic hypotension (OH). Linear and logistic regression analyses followed by moderated graphical network analyses were conducted to explore the complex association between OH and ESS. Edge weight from graphical network analysis indicates the strength of the association.</p><p><strong>Results: </strong>Data on 453 subjects with PD were analyzed. Median disease duration was 5.8 years and nearly 90 % were H&Y stage <3. OH was not associated with EDS. OH was associated with depression (edge weight, 0.22) in cognitively impaired patients but not in cognitively normal patients. In addition, depression was associated with ESS (edge weight, 0.37; moderation weight, 0.22) in cognitively impaired patients to a greater extent than in cognitively normal patients (edge weight, 0.22).</p><p><strong>Conclusions: </strong>OH is not directly associated with daytime sleepiness in early, treated PD. However, OH seems to be associated with ESS via depression in cognitively impaired patients. This complex relationship deserves additional study.</p>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"468 ","pages":"123366"},"PeriodicalIF":3.6,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}