Journal of the Neurological Sciences最新文献

{"title":"Addressing the barrier of transport costs in accessing headache care in sub-Saharan Africa","authors":"Massimo Leone , Luca Giani , Monica Mwazangati , Derya Uluduz , Tayyar Şaşmaz , Victor Tamba Tolno , Giovanni Guidotti , Timothy J. Steiner","doi":"10.1016/j.jns.2024.123236","DOIUrl":"10.1016/j.jns.2024.123236","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"466 ","pages":"Article 123236"},"PeriodicalIF":3.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142290004","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":"Addressing the barrier of transport costs in accessing headache care in Sub-Saharan Africa","authors":"Lien-Chung Wei ,&nbsp;Hsien-Jane Chiu","doi":"10.1016/j.jns.2024.123237","DOIUrl":"10.1016/j.jns.2024.123237","url":null,"abstract":"<div><div>The article by Leone et al. (2024) highlights the significant barrier of transport costs in accessing headache care for HIV-positive patients in Malawi, a concern that resonates with challenges observed in opioid agonist therapy (OAT) in Taiwan. This letter draws parallels between the findings of Leone et al. and the Taiwanese experience, where distance to treatment centers has been shown to influence patients' choice of OAT. The discussion underscores the importance of expanding healthcare service availability and exploring telemedicine as potential solutions to mitigate geographical barriers. Integrating these approaches could improve patient retention and treatment outcomes in both regions. This commentary emphasizes the broader implications of transport-related barriers in healthcare access, advocating for strategic interventions to enhance healthcare delivery in resource-limited settings.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"466 ","pages":"Article 123237"},"PeriodicalIF":3.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142290003","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":"Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms","authors":"Georgios Koutsis ,&nbsp;Chrisoula Kartanou ,&nbsp;Zoi Kontogeorgiou ,&nbsp;Chrysoula Koniari ,&nbsp;Alexandros Mitrousias ,&nbsp;David Pellerin ,&nbsp;Marie-Jose Dicaire ,&nbsp;Pablo Iruzubieta ,&nbsp;Matt C. Danzi ,&nbsp;Konstantinos Athanassopoulos ,&nbsp;Nikolaos Ragazos ,&nbsp;Maria Stamelou ,&nbsp;Michail Rentzos ,&nbsp;Evangelos Anagnostou ,&nbsp;Stephan Zuchner ,&nbsp;Bernard Brais ,&nbsp;Henry Houlden ,&nbsp;Marios Panas ,&nbsp;Leonidas Stefanis ,&nbsp;Georgia Karadima","doi":"10.1016/j.jns.2024.123309","DOIUrl":"10.1016/j.jns.2024.123309","url":null,"abstract":"<div><h3>Objective</h3><div>Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30<!--> <!-->years of age. Intronic tandem repeat expansions (TREs) in <em>RFC1</em> and <em>FGF14</em> have recently emerged as common causes of LOCA. The relative contribution of classic vs. newly discovered TREs has not been systematically investigated in LOCA cohorts.</div></div><div><h3>Methods</h3><div>Over 28 years, 206 consecutive Greek LOCA index patients were referred for genetic testing and, based on clinical data and inheritance pattern, screened for FRDA, SCA1,2,3,6,7, FXTAS, CANVAS and SCA27B.</div></div><div><h3>Results</h3><div>A genetic diagnosis was reached in 62 of 206 cases (30.1 %). Mean age was 60.1 ± 11.2 (35–87) years and mean age at onset (AAO) 52.5 ± 11.4 (30–80) years. SCA27B accounted for 9.7 % of LOCA cases, CANVAS for 7.8 % and FRDA for 4.4 %. The overall frequency of SCA1, SCA2 and SCA7 was 6.8 %. No cases of SCA3 and SCA6 were identified. FXTAS contributed 1.5 % of cases. In sporadic cases, the diagnostic yield was 22.8 % (34 of 149; SCA27B: 8.7 %, CANVAS: 8.1 %, FRDA: 2.7 %, SCA2: 1.3 %, FXTAS: 1.3 % and SCA7: 0.7 %). In familial cases, the diagnostic yield was 49.1 % (28 of 57). Two cases with CANVAS had pseudodominant inheritance. Patients with SCA27B, CANVAS and FXTAS had mean AAO &gt; 50 years, whereas patients with FRDA, SCA1, SCA2 and SCA7 had mean AAO &lt; 50 years.</div></div><div><h3>Conclusion</h3><div>Recently-discovered TREs causing SCA27B and CANVAS represent the commonest known genetic causes of LOCA. Prioritizing testing for <em>FGF14</em> and <em>RFC1</em> expansions in the diagnostic algorithm of LOCA is recommended.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123309"},"PeriodicalIF":3.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687502","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":"REPLY: Hippocampal atrophy and white matter lesions as predictors of the transition from VMCI to vascular dementia: Implications for early intervention","authors":"Carlo Manco,&nbsp;Rosa Cortese,&nbsp;Nicola De Stefano","doi":"10.1016/j.jns.2024.123308","DOIUrl":"10.1016/j.jns.2024.123308","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123308"},"PeriodicalIF":3.6,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676129","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":"Hippocampal atrophy and white matter lesions as predictors of the transition from VMCI to vascular dementia: Implications for early intervention","authors":"Anna Ayu Herawati ,&nbsp;Ahmad Syaf ya Habibi ,&nbsp;Rizky Andana Pohan","doi":"10.1016/j.jns.2024.123307","DOIUrl":"10.1016/j.jns.2024.123307","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123307"},"PeriodicalIF":3.6,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687451","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":"Serum growth differentiation factor-15, glial fibrillary acidic protein, and neurofilament light chain: Their link and role in Creutzfeldt-Jakob disease","authors":"Carlo Manco ,&nbsp;Domenico Plantone ,&nbsp;Delia Righi ,&nbsp;Sara Locci ,&nbsp;Sabina Bartalini ,&nbsp;Roberto Marconi ,&nbsp;Nicola De Stefano","doi":"10.1016/j.jns.2024.123305","DOIUrl":"10.1016/j.jns.2024.123305","url":null,"abstract":"<div><h3>Background</h3><div>Creutzfeldt-Jakob disease (CJD) is a rapidly progressive neurodegenerative disorder characterized by neuronal damage. Emerging biomarkers, such as serum neurofilament light chain (sNfL), glial fibrillary acidic protein (sGFAP), and growth differentiation factor-15 (sGDF-15), are currently being studied for their potential use in this disease.</div></div><div><h3>Objectives</h3><div>This study analyzes the levels of sNfL, sGFAP, and sGDF-15, as well as their relationships, in patients with CJD compared to healthy controls (HC).</div></div><div><h3>Methods</h3><div>A total of 19 CJD patients and 81 age- and sex-matched HCs were enrolled. Serum levels of sNfL and sGFAP were measured using ultrasensitive immunoassays, while sGDF-15 levels were assessed via ELISA. Statistical analyses included correlation analysis and analysis of covariance (ANCOVA) models.</div></div><div><h3>Results</h3><div>CJD patients showed significantly higher serum levels of sNfL and sGFAP compared to HCs (p &lt;0,001). sNfL levels were positively correlated with both sGFAP (Rho = 0,70; <em>p</em> &lt; 0,001) and sGDF-15 (Rho = 0,60; <em>p</em> = 0,004). Interestingly, sGFAP levels were higher in female CJD patients compared to males (p = 0,001), while no significant difference in sNfL levels was observed between sexes.</div></div><div><h3>Conclusions</h3><div>In conclusion, this study explores the potential of sNfL, sGDF-15, and sGFAP as biomarkers in CJD patients. The higher levels of sNfL and sGFAP in CJD patients compared to healthy controls, along with the observed sex differences in sGFAP, highlight the need for further research into the interaction between astroglia and neurons in CJD, with a focus on sex as a key variable.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123305"},"PeriodicalIF":3.6,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648414","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":"Creutzfeldt-Jakob disease: A comprehensive review of current understanding and research","authors":"Huzaifa Noor,&nbsp;Muhammad Hadi Baqai,&nbsp;Hufsa Naveed,&nbsp;Tooba Naveed,&nbsp;Syed Sarosh Rehman,&nbsp;Muhammad Shaheer Aslam,&nbsp;Fatima Mustafa Lakdawala,&nbsp;Waleed Abdullah Memon,&nbsp;Sanjana Rani,&nbsp;Haneen Khan,&nbsp;Alizeh Imran,&nbsp;Sabeeh Khawar Farooqui","doi":"10.1016/j.jns.2024.123293","DOIUrl":"10.1016/j.jns.2024.123293","url":null,"abstract":"<div><div>Creutzfeldt-Jakob Disease (CJD) is one of the sample prion diseases that have characteristic features of rapidly progressive neurodegenerative disease manifested by psychomotor changes, some of which include cognitive dysfunction, motor disorder, and behavioral abnormalities. In general, this brief review will assist in elucidating the clinical features and onset, causes, diagnostic challenges, and therapeutic possibilities of CJD. It is classified into sporadic, hereditary, and acquired forms, and affection is identified as linked to the different prion varieties and genetic profiles. The disease process of CJD consists of the deposition of misfolded prions in the brain that causes apoptosis and the subsequent morphological features in the form of spongiform changes. Diagnostic strategies have changed; presently, one can see imaging methods, diagnosis through CSF biomarkers, and genetic-based diagnosis. At this time, there is no cure for CJD; therefore, management and treatment aim at supporting the patient and alleviating the signs and symptoms of the disease. As per our discussion, this review sought to accustom the readers with recent studies conducted, diagnostic advancements, and probable therapeutic approaches, pointing to the general index that more research is needed to fight CJD.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123293"},"PeriodicalIF":3.6,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639203","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":"Choroidal thickness in the eyes of Parkinson's disease patients measured using optical coherence tomography: A systematic review and meta-analysis","authors":"Sepehr Fekrazad ,&nbsp;Golnar Hassanzadeh ,&nbsp;Zahra Esmaeili ,&nbsp;Amirali Khosravi ,&nbsp;Delia Cabrera DeBuc ,&nbsp;Asadolah Movahedan","doi":"10.1016/j.jns.2024.123294","DOIUrl":"10.1016/j.jns.2024.123294","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) presents a complex etiology involving genetics and environmental factors. Non-motor symptoms often precede motor manifestations. Dopaminergic neuron degeneration, oxidative stress, and vascular changes characterize PD. Retinal changes are studied as potential biomarkers, yet choroidal involvement remains unclear. This review aims to clarify choroidal thickness's role in PD progression for diagnostic advancements.</div></div><div><h3>Methods</h3><div>We examined PubMed, Scopus, and Embase databases. Depending on the heterogeneity, an appropriate model was used for the meta-analysis. Additionally, meta-regression, publication bias, subgroup analyses, and quality evaluation were carried out.</div></div><div><h3>Results</h3><div>We evaluated twelve studies involving 442 PD patients and 608 healthy controls. This study found insignificant differences in choroidal thickness between PD patients and healthy controls.</div></div><div><h3>Conclusion</h3><div>Choroidal thickness is influenced by age, axial length, and intraocular pressure, with PD potentially impacting thickness through neurodegenerative mechanisms. However, inconsistencies exist in the findings, warranting further investigation. Future studies should explore the impact of disease severity, medication effects, and other confounding variables on choroidal thickness in PD patients. Additionally, advanced imaging modalities like optical coherence tomography angiography (OCTA) may provide more comprehensive evaluations of choroidal vascular changes in PD.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123294"},"PeriodicalIF":3.6,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695097","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":"The impact of gut microbiome and diet on post-acute sequelae of SARS-CoV-2 infection","authors":"Zabrina Reyes ,&nbsp;Mary Catherine Stovall ,&nbsp;Sanjana Punyamurthula ,&nbsp;Michele Longo ,&nbsp;Demetrius Maraganore ,&nbsp;Rebecca J. Solch-Ottaiano","doi":"10.1016/j.jns.2024.123295","DOIUrl":"10.1016/j.jns.2024.123295","url":null,"abstract":"<div><div>Long COVID, also known as Post COVID-19 condition by the World Health Organization or Post-Acute Sequelae of SARS-CoV-2 infection (PASC), is defined as the development of symptoms such as post-exertional malaise, dysgeusia, and partial or full anosmia three months after initial SARS-CoV-2 infection. The multisystem effects of PASC make it difficult to distinguish from its mimickers. Further, a comprehensive evaluation of the gut microbiome, nutrition, and PASC has yet to be studied. The gut-brain axis describes bidirectional immune, neural, endocrine, and humoral modulatory interactions between the gut microbiome and brain function. We explore recent studies that support an association between alterations in gut microbiome diversity and the severity of acute-phase COVID-19, and how these may be affected by diets rich in antioxidants and fiber. The Mediterranean Diet (MeDi) has demonstrated promising neuroprotective effects through its anti-inflammatory processes. Further, diets rich in fiber increase gut diversity and increase the amount of short-chain fatty acids (SCFAs) within the body—both shown to protect from acute COVID-19 complications. Long-term changes to the gut microbiome persist after acute infection and may increase susceptibility to PASC. This study builds on existing knowledge of determinants of PASC and highlights a relationship between nutrition, gut microbiome, acute-phase COVID-19, and, subsequently, PASC susceptibility.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123295"},"PeriodicalIF":3.6,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648426","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":"Utility of Tau PET in the diagnostic work up of neurodegenerative dementia among Indian patients","authors":"Anu Gupta ,&nbsp;Madhavi Tripathi ,&nbsp;Varuna Sharma ,&nbsp;Shubha G. Ravindra ,&nbsp;Savyasachi Jain ,&nbsp;Gifty Madhu ,&nbsp;Anjali ,&nbsp;Jyoti Yadav ,&nbsp;Inder Singh ,&nbsp;Roopa Rajan ,&nbsp;Venugopalan Y. Vishnu ,&nbsp;Vaibhav Patil ,&nbsp;Ashima Nehra ,&nbsp;Mamta Bhushan Singh ,&nbsp;Rohit Bhatia ,&nbsp;Ashok Sharma ,&nbsp;Achal K. Srivastava ,&nbsp;Shailesh Gaikwad ,&nbsp;Manjari Tripathi ,&nbsp;M.V. Padma Srivastava","doi":"10.1016/j.jns.2024.123292","DOIUrl":"10.1016/j.jns.2024.123292","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Tau PET is being increasingly appraised as a novel diagnostic modality for dementia work up. Given limited data among South Asians, we assessed the frequency, patterns, phenotypic associations and incremental value of positive Tau PET scans in clinically diagnosed neurodegenerative dementia.</div></div><div><h3>Methods</h3><div>This cross-sectional study recruited consecutive patients of Alzheimer's disease (AD) and non-AD syndromes (September 2021 to October 2022, India). Participants underwent clinical interview, cognitive assessment, MRI brain and tau PET scan ([F-18]ML-104). Visual read in <em>a priori</em> regions of interest was used to identify patterns of tau deposition in the brain.</div></div><div><h3>Results</h3><div>We recruited 54 participants (mean age: 63.2 ± 9.2 years, 64.8 % men, 77.8 % dementia, 70.4 % early onset cases, 37.8 % APOE4+). The analysis identified abnormal tau uptake in 40/54 (74.1 %) participants; with uptake in AD signature areas in 27/40 (67.5 %) cases [cortical subtype (74.1 %), limbic (14.8 %), combined cortical/limbic (11.1 %)], and patterns not conforming to AD in 13/40 (32.5 %) cases. Tau PET substantiated the diagnosis of AD among 17/19 (89.5 %) cases with clinically diagnosed AD dementia, 8/23 (34.8 %) cases with suspected non-AD cause, and 2/12 (16.7 %) cases with mild cognitive impairment. A trend for increasing proportion of early onset cases, and worsening cognition, behavior and functional ability was seen, from ‘limbic’ to ‘combined cortical/limbic’ to ‘cortical’ subgroups.</div></div><div><h3>Conclusion</h3><div>Tau PET is a useful modality to differentiate AD dementia from other neurodegenerative causes in the Indian setting where amyloid biomarkers are not widely available. Biological subtypes of AD map well onto clinical phenotypes and need study in larger cohorts.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123292"},"PeriodicalIF":3.6,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648428","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}