eNeurologicalSciPub Date : 2025-02-01DOI: 10.1016/j.ensci.2025.100559
Matthew C. Kiernan
{"title":"Recent developments in consensus diagnostic criteria for amyotrophic lateral sclerosis","authors":"Matthew C. Kiernan","doi":"10.1016/j.ensci.2025.100559","DOIUrl":"10.1016/j.ensci.2025.100559","url":null,"abstract":"","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100559"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143146058","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}
eNeurologicalSciPub Date : 2025-01-26DOI: 10.1016/j.ensci.2025.100558
Jao Jarro B. Garcia , Gilbert J. Cabataña Jr , Iris Ditan , Karl Josef Niño J. Separa , Ida Ingrid Rocha-Tulagan , Han-I Lin , Chin-Hsien Lin , Melanie Leigh D. Supnet-Wells , Alejandro F. Diaz , Arlene R. Ng , Roland Dominic G. Jamora , Gerard Saranza
{"title":"Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines","authors":"Jao Jarro B. Garcia , Gilbert J. Cabataña Jr , Iris Ditan , Karl Josef Niño J. Separa , Ida Ingrid Rocha-Tulagan , Han-I Lin , Chin-Hsien Lin , Melanie Leigh D. Supnet-Wells , Alejandro F. Diaz , Arlene R. Ng , Roland Dominic G. Jamora , Gerard Saranza","doi":"10.1016/j.ensci.2025.100558","DOIUrl":"10.1016/j.ensci.2025.100558","url":null,"abstract":"<div><div>Huntington's Disease (HD) is an autosomal-dominant, neurodegenerative condition characterized by extrapyramidal, psychiatric, and cognitive disturbances. In the Philippines, only one genetically confirmed sporadic case had been previously reported. This study aims to present ten additional cases of genetically proven familial HD. All cases were of pure Filipino descent, aged 27–65. Six were males, and nine had at least one relative who manifested with the same symptomatology. The youngest age at onset was 21 years old. Nine initially manifested with chorea, whereas one manifested initially with behavioral change. At the time of consult, eight already had cognitive changes exemplified by memory lapses, while six also manifested behavioral or psychiatric disturbances. Workup revealed caudate atrophy in six and cerebral atrophy in five of the cases. All tested positive on genetic testing with the CAG trinucleotide spanning 41 to 53 repeats. The clinical profile of our patients did not differ from the known and published natural course of HD. To date, HD remains underrecognized in the Philippines. Although rare in Asian countries, it should still be a differential for a patient with chorea, cognitive decline, behavioral changes, and a strong family history of the same symptomatology.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100558"},"PeriodicalIF":0.0,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143146059","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}
eNeurologicalSciPub Date : 2025-01-11DOI: 10.1016/j.ensci.2025.100553
Bassem Yamout
{"title":"Update in multiple sclerosis","authors":"Bassem Yamout","doi":"10.1016/j.ensci.2025.100553","DOIUrl":"10.1016/j.ensci.2025.100553","url":null,"abstract":"<div><div>Multiple Sclerosis (MS) is a chronic demyelinating disorder of the central nervous system (CNS) that affects predominately patients aged 20–40 years. The epidemiology of MS is changing worldwide, as is the understanding of its immunopathogenesis and natural history, with new evidence pointing towards a multifactorial etiology involving both environmental and genetic factors. The prevalence and incidence rates of MS have been steadily increasing worldwide over the last few decades. The diagnosis of MS relies on incorporating clinical and paraclinical findings to prove dissemination in space and time. Appropriate selection of MS therapies is critical to maximize patient benefit. The field of MS therapeutics is evolving rapidly as several novel disease modifying therapies (DMTs) have been added to our armamentarium in the last decade. This review will cover the epidemiology of MS, new concepts in immunopathogenesis and etiology, recent diagnostic criteria and red flags for avoiding misdiagnosis, therapeutic advances, disease management during pregnancy, and updated treatment guidelines.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100553"},"PeriodicalIF":0.0,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11787709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081314","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}
eNeurologicalSciPub Date : 2025-01-10DOI: 10.1016/j.ensci.2025.100554
Armin Adibi , Iman Adibi , Saeed Bahramian , Saba Naghavi , Fatemeh Gholami
{"title":"Bilateral optic neuritis as an atypical presentation of juvenile Behcet syndrome: A case report","authors":"Armin Adibi , Iman Adibi , Saeed Bahramian , Saba Naghavi , Fatemeh Gholami","doi":"10.1016/j.ensci.2025.100554","DOIUrl":"10.1016/j.ensci.2025.100554","url":null,"abstract":"<div><div>Behcet syndrome is a systemic vasculitis characterized by relapsing uveitis, oral aphthous, and genital ulcers. We present a rare case of a 14-year-old male with juvenile Behcet syndrome (JBS) presenting as bilateral optic neuritis with oral aphthous. Initial treatment with methylprednisolone did not improve the patient's condition. Serum plasmapheresis was performed, resulting in improved visual acuity and papillitis. The patient was discharged with azathioprine, which led to symptom regression. This case highlights the atypical neurologic presentation of JBS and the potential efficacy of plasma exchange in refractory cases.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100554"},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11782894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081129","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":"Early diagnosis of cryptococcal meningoencephalitis in HIV-negative patients: Integration of brain MRI and clinical findings","authors":"Kosei Nakamura, Masato Kanazawa, Yuka Koike, Takuya Konno, Osamu Onodera","doi":"10.1016/j.ensci.2025.100552","DOIUrl":"10.1016/j.ensci.2025.100552","url":null,"abstract":"<div><h3>Purpose</h3><div>Cryptococcal meningoencephalitis (CM) in human immunodeficiency virus (HIV)-negative patients are often diagnosed later than in HIV-infected patients, which increases mortality rates concerning the former. Consequently, early diagnosis and treatment are crucial for improving clinical prognosis in HIV-negative patients. This study investigated the utility of magnetic resonance imaging (MRI) in combination with clinical and laboratory findings for early diagnosis of CM in HIV-negative patients.</div></div><div><h3>Methods</h3><div>This retrospective cohort analysis included consecutive patients diagnosed with central nervous system (CNS) infections. Demographic profiles, laboratory findings, admission symptoms, and MRI findings were assessed. A comparative analysis between CM and other CNS infections was performed.</div></div><div><h3>Results</h3><div>Twelve HIV-negative patients were diagnosed with CM, while 38 exhibited other CNS infections (two fungal, 23 bacterial, 12 viral, one parasitic). Pseudocysts on MRI (<em>p</em> = 0.002), absence of fever (<em>p</em> = 0.001), headache (<em>p</em> = 0.005), and normal C-reactive protein (CRP) levels (<em>p</em> = 0.020) were specific findings in CM. By applying a cut-off value of one point in combination of pseudocysts, absence of fever, headache, and normal CRP levels in differentiating CM from other CNS infections, the sensitivity and specificity were calculated as 76.3 % and 91.7 %, respectively.</div></div><div><h3>Conclusion</h3><div>Integrating pseudocysts, absence of fever, headache, and normal CRP levels predicts early CM diagnosis, potentially improving outcomes.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100552"},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11772152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143060814","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}
eNeurologicalSciPub Date : 2025-01-09DOI: 10.1016/j.ensci.2025.100549
Abdullah M. Al-Qudah , Pooja S. Tallapaneni , Donald J. Crammond , Jeffrey Balzer , Katherine M. Anetakis , Varun Shandal , Jingyuan Biaesch , Malik Ghannam , Neelesh Nadkarni , Bradley A. Gross , Michael Lang , Kathirvel Subramanium , Senthilkumar Sadhasivam , Parthasarathy D. Thirumala
{"title":"Intraoperative neuromonitoring as an independent predictor for postoperative delirium in ICU following aneurysm clipping","authors":"Abdullah M. Al-Qudah , Pooja S. Tallapaneni , Donald J. Crammond , Jeffrey Balzer , Katherine M. Anetakis , Varun Shandal , Jingyuan Biaesch , Malik Ghannam , Neelesh Nadkarni , Bradley A. Gross , Michael Lang , Kathirvel Subramanium , Senthilkumar Sadhasivam , Parthasarathy D. Thirumala","doi":"10.1016/j.ensci.2025.100549","DOIUrl":"10.1016/j.ensci.2025.100549","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aims to evaluate the diagnostic accuracy of significant intraoperative neurophysiological monitoring (IONM) changes as an independent predictor of postoperative delirium (POD) in patients undergoing aneurysm clipping.</div></div><div><h3>Methods</h3><div>IONM and clinical data from 273 patients who underwent craniotomy for aneurysm clipping from 2019 until 2021 were retrospectively reviewed. Significant IONM changes and POD were respectively evaluated based on visual review of data and clinical documentation. POD was assessed multiple times in the ICU using the Intensive Care Delirium Screening Checklist (ICDSC).</div></div><div><h3>Results</h3><div>Of the 273 patients undergoing craniotomy with IONM, 83 had POD (30.4 %). Significant IONM changes were noted in 42 patients, of which 19 patients had POD (45.2 %). In contrast, 231 patients had no IONM changes during surgery, of which 64 (27.7 %) patients had POD. Multivariable analysis showed that significant IONM changes were associated with POD, OR: 2.09 (95 % CI 1.01–4.43, <em>p</em>-value: 0.046). Additionally, somatosensory evoked potentials (SSEP) changes were significantly associated with POD (p-value: 0.044).</div></div><div><h3>Conclusion</h3><div>Significant IONM changes are associated with an increased risk of POD in patients undergoing craniotomy for aneurysm clipping. Our findings offer a strong basis for future research and analysis of EEG and SSEP monitoring to detect and possibly prevent POD.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100549"},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11786857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081208","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}
eNeurologicalSciPub Date : 2025-01-06DOI: 10.1016/j.ensci.2025.100551
Amirhosein Ghasemi , Nima Broomand Lomer , Alia Saberi
{"title":"Is there a link between Hepatitis A virus and Guillain-Barré syndrome? A systematic review of case reports","authors":"Amirhosein Ghasemi , Nima Broomand Lomer , Alia Saberi","doi":"10.1016/j.ensci.2025.100551","DOIUrl":"10.1016/j.ensci.2025.100551","url":null,"abstract":"<div><h3>Introduction</h3><div>Guillain-Barré syndrome (GBS) is an inflammatory disorder of the peripheral nervous system, causing acute flaccid paralysis. There have been occasional reports linking Hepatitis A virus (HAV) to GBS. Here we aimed to evaluate the current literature on the association between GBS and HAV, exploring potential mechanisms and clinical implications.</div></div><div><h3>Methods</h3><div>We conducted a systematic search using PRISMA guidelines in PubMed, Web of Science, Embase, and Scopus. Only published case reports or conference abstracts presenting cases of confirmed HAV infection and GBS were included. Data extraction was performed independently by two reviewers, and quality assessment was conducted using the Joanna Briggs Institute critical appraisal tool.</div></div><div><h3>Results</h3><div>Out of 581 studies identified, 46 studies encompassing 47 cases met the inclusion criteria. The mean age of patients was 29.47 years, with a male predominance (70.2 %). Geographically, most cases were reported in Asia (74.5 %). Clinical manifestations of HAV included fever, malaise, and jaundice, while GBS presented with muscle weakness and areflexia. Laboratory findings showed albuminocytological dissociation in 76.2 % of cases. Nerve conduction studies predominantly indicated AIDP subtype (32/46, 69.6 %). Treatment involved IVIG, plasmapheresis, and supportive care, with recovery times ranging from one week to 18 months. One fatality was reported.</div></div><div><h3>Conclusions</h3><div>This review suggests a potential link between HAV infection and GBS, proposing a mechanism: molecular mimicry. It emphasizes the need for increased awareness and preventive measures, especially in areas with lower health standards. However, further research is needed to clarify the possible mechanisms and deepen our understanding.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100551"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047858","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}
eNeurologicalSciPub Date : 2025-01-06DOI: 10.1016/j.ensci.2025.100550
Sara Samadzadeh , Roy D. Sleator
{"title":"The role of Neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) in MS and AQP4-NMOSD: Advancing clinical applications.","authors":"Sara Samadzadeh , Roy D. Sleator","doi":"10.1016/j.ensci.2025.100550","DOIUrl":"10.1016/j.ensci.2025.100550","url":null,"abstract":"<div><div>Fluid biomarkers such as Glial Fibrillary Acidic Protein (GFAP) and Neurofilament Light (NfL) play important roles in the diagnosis, monitoring, and evaluation of therapeutic responses in conditions such as Multiple Sclerosis (MS) and Aquaporin-4 Neuromyelitis Optica Spectrum Disorder (AQP4-NMOSD). These biomarkers offer key insights into the underlying pathophysiological mechanisms of these diseases, enabling effective follow-up and personalized treatment approaches, which are essential for improving patient outcomes. Herein, we synthesize the structural attributes, functional roles, and clinical significance of GFAP and NfL in the context of MS and AQP4-NMOSD. We explore the critical implications of these biomarkers in disease manifestation and progression, emphasizing the necessity to develop standardized methodologies and multicentric studies to confirm their clinical applicability.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100550"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11762903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048120","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}
eNeurologicalSciPub Date : 2025-01-05DOI: 10.1016/j.ensci.2025.100548
Wolfgang Grisold, Stephen L. Lewis
{"title":"The world federation of neurology digital neurology update (WNU)","authors":"Wolfgang Grisold, Stephen L. Lewis","doi":"10.1016/j.ensci.2025.100548","DOIUrl":"10.1016/j.ensci.2025.100548","url":null,"abstract":"","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"38 ","pages":"Article 100548"},"PeriodicalIF":0.0,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11762908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048133","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}