Annals of Indian Academy of Neurology最新文献

{"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":"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":"585-589"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393842/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Sketch of Parkinson's Disease in India.","authors":"Suvorit S Bhowmick, Soaham D Desai","doi":"10.4103/aian.aian_1021_24","DOIUrl":"10.4103/aian.aian_1021_24","url":null,"abstract":"<p><strong>Abstract: </strong>By the current estimates, India is likely to face an alarmingly high burden of Parkinson's disease (PD) in the next two decades. Untangling the pathophysiology of PD through genetic research is the key to precision medicine and prevention strategies. This narrative review serves dual purpose of recapitulating phenomenology of monogenic diseases presenting with parkinsonism and synthesizing knowledge on PD genetics gained through research in India over the past two decades. Recent studies have detected rare genetic variants in 15%-20% of the early-onset PD patients in India. Due to lack of segregation analysis and functional validation, a vast majority of these remain as variants of uncertain significance. Nevertheless, several potentially pathogenic variants detected in the Indian PD patients are not yet cited in the global genetic databases such as Movement Disorder Society Genetic mutation database. Biallelic mutations (pathogenic single-nucleotide variants and copy number variants) in the PRKN gene account for 3%-5% of monogenic early-onset PD in the Indian population. About 2%-3% of the Indian EOPD patients carry pathogenic variants in the genes associated with atypical parkinsonism, such as PLA2G6 , suggesting that initially, they may be indistinguishable from monogenic PD. Up to 10% of the PD patients in India carry heterozygous pathogenic variants in GBA1 , a risk factor gene. Genetic research in India has several critical gaps, such as uneven geographic or ethnic representation, discrepancies in variant classification, and lack of large-scale genome-wide association studies. Sustained nationwide as well as international collaborative efforts are needed to bridge these gaps and foster translational science.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"495-504"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","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":"541-546"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393865/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebral Chromoblastomycosis: A Unique Presentation of Dematiaceous Fungal Infection in an Immunocompromised Patient.","authors":"Norton Stephen, Soundarya Ravi, Srinivas Bheemanathi Hanuman, Vir Singh Negi, Madhavan Sasidharan Gopalakrishnan","doi":"10.4103/aian.aian_747_24","DOIUrl":"10.4103/aian.aian_747_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"606-608"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacotherapy in Early Parkinson's Disease: A Pragmatic Approach.","authors":"Sayooja Sachithanandan, Asish Vijayaraghavan, Reshma Venugopal, Divya Kalikavil Puthenveedu, Syam Krishnan","doi":"10.4103/aian.aian_676_25","DOIUrl":"10.4103/aian.aian_676_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"28 4","pages":"512-518"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144871087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shaky Beginnings: A Novel CoQ8A Mutation in Adolescent-Onset Cerebellar Ataxia with Head Tremors.","authors":"Vishnu K Subramanian, Saranya B Gomathy, Shamir Sella Sugan, Ramkumar Sugumaran, Sunil K Narayan","doi":"10.4103/aian.aian_247_25","DOIUrl":"https://doi.org/10.4103/aian.aian_247_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526213","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":"Embolic Stroke of Undetermined Source (ESUS): Prevalence, Risk Factors, and Diagnostic Insights from a Prospective German Cohort.","authors":"Priyanka Boettger, Jamschid Sedighi, Martin Juenemann, Michael Buerke, Omar Alhaj Omar","doi":"10.4103/aian.aian_327_25","DOIUrl":"https://doi.org/10.4103/aian.aian_327_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>Embolic stroke of undetermined source (ESUS) was introduced to standardize the classification of cryptogenic strokes with presumed embolic origin. However, ESUS comprises a heterogeneous group with diverse clinical and diagnostic features. This study aimed to characterize ESUS within a prospective stroke cohort and compare it with other defined ischemic stroke subtypes.</p><p><strong>Methods: </strong>In this prospective, single-center study, patients with acute ischemic stroke or transient ischemic attack (TIA) were enrolled over 6 months. Stroke etiology was classified according to established criteria, including ESUS definitions based on the exclusion of major cardioembolic sources, ≥50% large-artery stenosis, and small-vessel disease. All patients underwent neuroimaging, vascular diagnostics, and cardiological workup, including echocardiography and rhythm monitoring.</p><p><strong>Results: </strong>Of 714 patients, 98 (13.7%) met ESUS criteria. ESUS patients were younger (median 67 vs. 74 years), predominantly male (61.2%), and had fewer prior strokes or TIAs (11.2% vs. 27.6%, P < 0.001) than nonESUS patients. Hypertension (72.2%) and obesity (54.2%) were common. Stroke severity at discharge was lower in ESUS (National Institutes of Health Stroke (NIHSS) 1.9 ± 2.3) compared to cardioembolic (4.8 ± 3.7) and atherosclerotic strokes (3.5 ± 3.1) (P < 0.05), and no in-hospital deaths occurred in the ESUS group (P = 0.02). While overall diagnostic imaging rates were similar across groups, transesophageal echocardiography was performed more frequently in ESUS (38.8%).</p><p><strong>Conclusions: </strong>ESUS accounted for 18% of ischemic strokes and represents a distinct, clinically relevant subgroup with unique demographic and outcome profiles. These findings support the refinement of ESUS classification and the need for individualized diagnostic and secondary prevention strategies.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526211","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":"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":"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}