Annals of Indian Academy of Neurology最新文献

{"title":"Movement Disorders in CSF1R-Related Leukoencephalopathy: A Case Series.","authors":"Nitish Kamble, R S Harishma, Vikram V Holla, Shweta Prasad, Jitender Saini, Pramod K Pal","doi":"10.4103/aian.aian_51_25","DOIUrl":"https://doi.org/10.4103/aian.aian_51_25","url":null,"abstract":"<p><strong>Abstract: </strong>CSF1R-related leukoencephalopathy is a rare, dominantly inherited leukoencephalopathy caused by mutations in the CSF1R gene that codes for colony-stimulating factor 1 receptor. We describe the clinical and neuroimaging features in three genetically confirmed cases (two women) of CSF1R-related leukoencephalopathy. The age at onset ranged from 41 to 45 years. Cognitive and behavioral disturbances were seen in all patients, and one patient had epilepsy. The movement disorders included parkinsonism, freezing of gait, cerebellar ataxia, tremors, etc., Pyramidal signs were noted in two patients. Magnetic resonance imaging of the brain showed signal changes in the white matter. Whole-exome sequencing revealed mutation in the CSF1R gene, confirming the diagnosis. A combination of rapidly progressive cognitive and behavioral disturbances with involvement of pyramidal, extrapyramidal, and characteristic neuroimaging suggests diagnosis. Currently, the treatment is symptomatic as there is no specific treatment for the disease and a multidisciplinary team is required for managing these patients. Hematopoietic stem cell transplantation has shown to benefit a few patients.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tetrapolydactyly and Hydrocolpos in an Infant: Neuroimaging Gives Clue to the Diagnosis.","authors":"Singanamalla Bhanudeep, Bramhini B Koneti","doi":"10.4103/aian.aian_217_25","DOIUrl":"https://doi.org/10.4103/aian.aian_217_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endovascular Approach in Acute Ischemic Stroke Secondary to Bilateral Vertebral Artery Dissection.","authors":"Rajeev Goel, Vivek Gupta, Amit Shankar","doi":"10.4103/aian.aian_20_25","DOIUrl":"https://doi.org/10.4103/aian.aian_20_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Deadly Duo: Viper Bite-Induced Coagulation Disorder and Multiple Territory Ischemic Stroke.","authors":"Sara Sravan Kumar, Sandhya Manorenj","doi":"10.4103/aian.aian_1015_24","DOIUrl":"https://doi.org/10.4103/aian.aian_1015_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current Opinions and Practices in Functional Neurological Disorders: A Survey of Indian Neurologists.","authors":"Jitendra Upadhyay, Kartika Gulati, Sanjay Pandey","doi":"10.4103/aian.aian_116_25","DOIUrl":"10.4103/aian.aian_116_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>Functional neurological disorders (FNDs) are common in clinical practice and a significant cause of disability. In India, the presentation of FNDs is influenced by socio-cultural factors, yet there is limited research on how FNDs are perceived and managed. This survey aimed to explore the diverse clinical experiences of Indian neurologists on FNDs, including the diagnostic and management challenges they face.</p><p><strong>Methods: </strong>An online survey was sent to 1,571 neurologists across India, collecting 117 responses (7.45%) over 4 weeks. The questionnaire was designed to capture respondent demographics, FND precipitating factors and associated stigma, utilization of diagnostic tools, access to multidisciplinary teams, challenges in patient management, and engagement in FND research and societies.</p><p><strong>Results: </strong>Overall, 78.6% of the respondents preferred the term \"functional.\" Home-based videos (99.1%) and multidisciplinary teams (67.5%) were commonly used. Barriers included time constraints (73.5%) and prevalent myths surrounding FNDs (95.7%). Only 23.9% reported using neurophysiological tools in FND. Participation in FND-specific societies (3.4%) and research (12%) was remarkably low.</p><p><strong>Conclusions: </strong>Our survey highlights evolving trends and persistent challenges in FND care in India. While the adoption of \"functional\" terminology, home-based videos for diagnosis, and multidisciplinary approaches mark progress, barriers include time constraints, and prevalent myths. Underutilization of neurophysiological tools is a significant barrier, and professional engagement in FND research and societies is also limited. Enhancing education, specialized training, and professional engagement is essential for improving FND care.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unlocking Hope: Development of India's First Indigenous Ketogenic Dietary Formula for Pediatric Epilepsy Care.","authors":"Soma Basu, A J Hemamalini","doi":"10.4103/aian.aian_155_25","DOIUrl":"10.4103/aian.aian_155_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>Epilepsy affects millions of children worldwide, with 30% of cases being resistant to conventional antiseizure medications, necessitating alternative treatments. The ketogenic diet, a high-fat, low-carbohydrate regimen, is effective in drug-resistant epilepsy, but access to affordable, culturally appropriate ketogenic products remains a challenge in developing countries. This study aims to develop the first indigenous ketogenic formula for children with drug-resistant epilepsy, using locally sourced, culturally appropriate ingredients.</p><p><strong>Methods: </strong>A ketogenic formula was developed using coconut milk powder, almond flour, soya flour, rice flakes, Bengal gram dal, and coconut oil, ensuring adaptability to ketogenic ratios (1:1 to 4:1). Organoleptic evaluation was conducted with neurologists, dietitians, parents, and children to assess taste, texture, and acceptability. Microbial safety and nutritional analysis ensured compliance with dietary requirements.</p><p><strong>Results: </strong>The developed ketogenic formula demonstrated high acceptability across all groups, with neurologists, dietitians, parents, and children giving hedonic scores of 8.8, 8.6, 8.4, and 8.2, respectively. Microbial testing confirmed safety, with no pathogenic bacteria detected. Nutritional analysis confirmed adherence to dietary standards with an energy content 564.99 kcal, fat content 37.99 g, protein content 9.1 g, and carbohydrates 46.67 g. The developed ketogenic formula also maintained its quality and safety throughout a 6-month shelf life study without use of any preservatives.</p><p><strong>Conclusions: </strong>This study successfully developed a culturally appropriate, cost-effective ketogenic formula, addressing barriers to epilepsy management in resource-limited settings. Its high acceptability, safety, and adaptability suggest its potential for widespread use. Future clinical trials will assess its long-term efficacy and broader applicability.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vertebral Artery Web as a Rare Cause of Ischemic Stroke in a Young Male.","authors":"Harsimran Kaur, Romil Singh, Daniel Diehl, Russell Cerejo","doi":"10.4103/aian.aian_144_25","DOIUrl":"10.4103/aian.aian_144_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cluster of Fulminant Guillain-Barre Syndrome in Maharashtra from June to October 2023: Multicentric Survey.","authors":"Amira Patel, Megha Dhamne, Rahul Kulkarni, Pawan Ojha, Dhruv Batra, Jayanti Mani, Tushar Raut, Vyankatesh Bolegave, Gautam Kale, Gautam Tripathi, Anand Soni, Lomesh Birud, Yatin Sagvekar, Yogesh Patidar, Yogesh Godge, Manoj Hunnur, Sandeep Borse, Tanu Singhal, Anagha Choudhari, Annu Aggarwal","doi":"10.4103/aian.aian_1022_24","DOIUrl":"https://doi.org/10.4103/aian.aian_1022_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144232957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Revolutionizing Stroke Management with Wearable Technology: A Narrative Review of Clinical Applications, Opportunities, Challenges, and the Future Path Towards Equitable Implementation.","authors":"Anand Vaishnav, Soaham Desai","doi":"10.4103/aian.aian_156_25","DOIUrl":"https://doi.org/10.4103/aian.aian_156_25","url":null,"abstract":"<p><strong>Abstract: </strong>Stroke remains a leading global cause of mortality and disability, necessitating innovative approaches to address gaps in prevention, acute care, and rehabilitation. This narrative review synthesizes evidence on the transformative potential of wearable technology (WT) across the stroke care continuum and identifies critical challenges to its equitable implementation. A systematic search of PubMed/Medical Literature Analysis and Retrieval System Online (MEDLINE), Scopus, and Google Scholar (up to December 2024) identified 50 studies following Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA)-guided screening and thematic analysis. In prevention, WT facilitates primordial strategies through physical activity tracking and sleep monitoring, while in primary prevention, it enables continuous management of hypertension, atrial fibrillation (AF), diabetes, and sleep apnea. Large-scale trials, such as the Apple Heart Study, validate WT's efficacy in AF detection (84% positive predictive value), though confirmatory medical-grade testing remains essential. For acute care, WT demonstrates promise in early stroke detection through accelerometer-based algorithms and remote neurological assessments. Post-stroke rehabilitation strategies utilize wearable sensors, robotics, and virtual reality to enhance motor recovery, with exoskeletons improving gait speed and sensorimotor feedback increasing upper limb function. Despite these advances, critical barriers persist: fragmented evidence from heterogeneous studies, scarce randomized controlled trials evaluating long-term outcomes, and ethical concerns regarding data privacy and algorithmic bias. Socioeconomic disparities further limit access, particularly in low-resource settings where 70% of stroke deaths occur. To realize WT's potential, stakeholders must prioritize pragmatic trials, standardized protocols, affordable designs, and policies aligning innovation with equity. This review underscores WT's role in global stroke care and advocates for collaborative, patient-centered strategies to bridge gaps.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144232958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcranial Doppler Screening in Sickle Cell Disease: Insights from a Regional Study in Karnataka, India.","authors":"Suryanarayana Sharma, Pooja Aggarwal, Meenakshi Gowrishankar, Tanya Seshadri, Vijay K Sharma, Kishore Ramachandraiah, Deepa Bhat","doi":"10.4103/aian.aian_65_25","DOIUrl":"https://doi.org/10.4103/aian.aian_65_25","url":null,"abstract":"<p><strong>Abstract: </strong>Sickle cell disease (SCD), a hereditary blood disorder in India, disproportionately affects Adivasi communities burdened by socio-economic and systemic inequities. Stroke, a severe complication of SCD, is underexplored in Indian populations, especially among Adivasi groups. This pilot study evaluated the feasibility of transcranial Doppler (TCD) screening in a peripheral healthcare setting in Karnataka, focusing on Adivasi SCD patients. Among 39 participants (27 HbSS, three HbSβ0, nine HbAS) from a hemoglobinopathy registry, none exhibited elevated time-averaged maximum mean (TAMM) velocities, but 73.3% of SCD patients showed unusually low middle cerebral artery (MCA) velocities (<70 cm/s). Significant differences in basilar artery (BA) flow velocities were noted between SCD and sickle cell trait (SCT) patients (p<0.05), while MCA parameters were comparable. The findings establish baseline TCD velocities and highlight the need for region-specific stroke prevention guidelines tailored to underserved Adivasi populations.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144214743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}