{"title":"Restless Legs Syndrome: An Unusual Initial Non-motor Manifestation of Huntington's Disease.","authors":"Monika Shailesh, Nayana Bhuyan, Niraj Kumar Srivastava, Anand Kumar, Varun Kumar Singh, Niraj Kumar, Deepika Joshi","doi":"10.4103/aian.aian_1027_24","DOIUrl":"10.4103/aian.aian_1027_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"453-454"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144155946","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":"Intravenous Methylprednisolone in Guillain-Barré syndrome: The Way to Go Further.","authors":"José Berciano","doi":"10.4103/aian.aian_356_25","DOIUrl":"10.4103/aian.aian_356_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"455-457"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144224086","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 Community-Based Screening Tool for Childhood Epilepsy: Cross-Cultural Adaptation and Validation of the INDT-EPI Tool in Punjabi-Speaking Indian Population.","authors":"Rajni Sharma, Sulena Sulena, Gagandeep Singh, Khushboo Bhagat, Tanvi Kiran, Abhay Partap Maurya, Sandeep Negi, Marami Das, Shikha Jain, Hobinder Arora, Sujiv Akkilagunta, Mehzabin Haider Hazarika, Jitendra Kumar Sahu","doi":"10.4103/aian.aian_1060_24","DOIUrl":"https://doi.org/10.4103/aian.aian_1060_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Early diagnosis of epilepsy is crucial for improving outcomes. However, access to specialized healthcare remains a challenge in many regions. This study aimed to adapt and validate the International Clinical Epidemiology Network Diagnostic Tool for Epilepsy (INDT-EPI) for screening childhood epilepsy in the Punjabi-speaking Indian population.</p><p><strong>Methods: </strong>A cross-sectional study was conducted among parents of children aged 1-18 years. The INDT-EPI tool was translated into Punjabi, back-translated, and pilot-tested. Psychometric properties, including internal consistency, were assessed using Cronbach's alpha. Test-retest reliability was assessed using the intraclass correlation coefficient (ICC) and Pearson correlation. Split-half reliability was evaluated using Spearman-Brown prophecy correlation coefficients. Sensitivity and specificity were calculated by comparing the findings of the INDT-EPI tool with clinical diagnoses.</p><p><strong>Results: </strong>The Punjabi version of the INDT-EPI tool demonstrated excellent cross-language concordance and robust psychometric properties. The tool's internal consistency, as measured by Cronbach's alpha, ranged from 0.904 to 1.000, indicating strong consistency across items. Test-retest reliability, assessed using ICC, ranged from 0.88 to 1.00, signifying excellent reliability. The Punjabi version of the INDT-EPI tool exhibited a high sensitivity of 86.6% (95% confidence interval [CI]: 79.2%-93.9%) and specificity of 87.1% (95% CI: 75.3%-98.9%). These findings suggest that the tool is a reliable and effective screening instrument for identifying children with epilepsy in Punjabi-speaking communities.</p><p><strong>Conclusions: </strong>The Punjabi version of the INDT-EPI tool is a reliable and consistent instrument for diagnosing epilepsy in children. Its excellent psychometric properties make it suitable for non-specialist healthcare providers. By enabling early diagnosis, it can improve patient outcomes and address the need for effective epilepsy diagnosis where specialized resources are scarce.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"28 3","pages":"414-421"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293234","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}
N Manuraj, Asish Vijayaraghavan, Soumya Sundaram, Sajith Sukumaran
{"title":"\"Tracing the Lead\" - Lead Encephalopathy Mimicking Autoimmune Encephalitis.","authors":"N Manuraj, Asish Vijayaraghavan, Soumya Sundaram, Sajith Sukumaran","doi":"10.4103/aian.aian_902_24","DOIUrl":"10.4103/aian.aian_902_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"461-463"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142943177","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":"When Tuberculosis Lurks: The Silent Risk of Central Nervous System Infection Following In vitro Fertilization.","authors":"Suparna Kumar, Govind Madhaw","doi":"10.4103/aian.aian_1018_24","DOIUrl":"10.4103/aian.aian_1018_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"459-460"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522349","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}
Mary Iype, Jesmy James, Mithran O Surendran, Ayyappan Anitha
{"title":"Genetic Profiling of Polymicrogyria in a South Indian Cohort.","authors":"Mary Iype, Jesmy James, Mithran O Surendran, Ayyappan Anitha","doi":"10.4103/aian.aian_1096_24","DOIUrl":"10.4103/aian.aian_1096_24","url":null,"abstract":"<p><strong>Abstract: </strong>Polymicrogyria (PMG) represents a complex disorder involving malformation of the cortex. There have not been any comprehensive genetic studies of PMG from India. Here, we have done a whole-exome sequencing (WES) study of the PMG patients in a South Indian population to identify the genetic causes of PMG. The study design was descriptive. Twenty patients with PMG were recruited for the study. WES was done for all the participants. Our study identified a few potential candidate genes associated with PMG, including ROS1, PIK3R2, SUSD2, NPIPB15, RBMX, DENND4B, KRT18, PUS1 , and TTC28 . Notably, some of these genes have been identified as having a substantial role in neurodevelopment. Some novel candidate genes of PMG were also identified in this study. The PMG-associated genes were enriched in the biological processes involved in cell adhesion, cytoskeleton organization, and nervous system development.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"422-425"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186312","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}
Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Vikas Krishnanada, Rima Sathyakumar, Anita Mahadevan
{"title":"Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.","authors":"Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Vikas Krishnanada, Rima Sathyakumar, Anita Mahadevan","doi":"10.4103/aian.aian_999_24","DOIUrl":"10.4103/aian.aian_999_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"480-482"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762636","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}
Alyaa Mostafa, Stephanie Tiu, Farooq Khan, Nusrath A Baig
{"title":"The Efficacy of Anti-amyloid Monoclonal Antibodies in Early Alzheimer's Dementia: A Systematic Review.","authors":"Alyaa Mostafa, Stephanie Tiu, Farooq Khan, Nusrath A Baig","doi":"10.4103/aian.aian_547_24","DOIUrl":"10.4103/aian.aian_547_24","url":null,"abstract":"<p><strong>Introduction: </strong>Much research has been conducted into the role and safety of anti-amyloid monoclonal antibodies on the progression of Alzheimer's disease (AD). Despite the historical approval of three drugs by the US Food and Drug Administration for the treatment of early AD, there remains other potential treatment, which is yet to be approved or further developed. This systematic review explores the efficacy of anti-amyloid monoclonal antibodies in the treatment of early AD from reported clinical trials.</p><p><strong>Methods: </strong>Authors conducted a systematic search of MEDLINE and Embase. Screening was carried out by two authors and cross-checked thereafter. Clinical changes in cognition and objective measures such as cerebrospinal fluid biomarkers and imaging constituted primary and secondary outcomes, respectively.</p><p><strong>Results: </strong>Our search yielded 14 randomized controlled trials; the primary focus of the included trials is amyloid-β. The monoclonal antibodies reported in this review are: lecanemab, aducanumab, crenezumab, solanezumab, donanemab, bapineuzumab, and gantenerumab. The most common finding among the trials is the lack of statistically significant results in measures of clinical outcomes, (e.g., Clinical Dementia Rating Scale-Sum of Boxes, AD Assessment Scale-Cognitive Subscale). However, specific trials investigating lecanemab, aducanumab, and donanemab demonstrated promising improvements in clinical cognition. Results related to secondary outcomes were also mixed, but showed more positive findings across the included trials. Overall, primary outcomes were inconsistent with secondary outcomes.</p><p><strong>Conclusion: </strong>Our findings highlight the need to consider the complex pathophysiology of AD in treatment development. Focusing solely on the amyloid-beta hypothesis may be inadequate; further research is necessary to understand the underlying mechanisms and develop treatments for the multifactorial nature of the disease.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"333-343"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952867","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":"Chikungunya and Dengue Encephalitis: A Critical Narrative Review.","authors":"Rajesh Verma, Rajarshi Chakraborty, Ankit Khetan","doi":"10.4103/aian.aian_28_25","DOIUrl":"10.4103/aian.aian_28_25","url":null,"abstract":"<p><strong>Abstract: </strong>Viral encephalitis is one of the leading presenting features of neurologic emergencies in tropical and subtropical areas. Chikungunya encephalitis (CE) and dengue encephalitis (DE) are important neurologic disorders of the central nervous system (CNS) with increased morbidity and mortality. This review discusses the pathogenesis, clinical features, diagnostic workup, and management of CE and DE, and provides insights into the vector-borne diseases with the help of literature obtained from clinical studies, reviews, and case series/reports. Chikungunya, as well as dengue viruses, are spread by the bite of Aedes aegypti and Aedes albopictus . The pathogenesis includes either direct invasion of the nervous system and/or immune-mediated CNS injury. It starts with fever, body aches/myalgia, and arthralgia (more in chikungunya) and may progress to encephalitis, if not treated properly during the initial stages. Laboratory investigations show leukopenia/thrombocytopenia, immunoglobulin M (serum and cerebrospinal fluid) positivity, and real-time polymerase chain reaction positivity. Brain imaging does not have any specific diagnostic clue. However, chikungunya has a predilection for the medulla oblongata, while dengue may affect the thalamus to show the classical double doughnut sign. Treatment is invariably medical, with adequate hydration and additional supportive care, although steroids and immunoglobulins have also been tried. CE and DE are critical vector-borne illnesses of CNS with guarded prognosis. The exact pathogenesis needs further research insights. A high index of clinical suspicion and aggressive management can lead to better outcomes. No specific therapy or immunization is available for CE or DE. However, these can be controlled by cleaning and eliminating all potential vector-breeding places.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"314-322"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144155891","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":"Arterial and Venous Infarcts: Dual Phenotypes of Dual Heterozygous MTHFR Gene Mutation.","authors":"Himanshu Kaushal, Balveen Singh, Jigdel Tenzing Wangdi, Anush Jain, Kunal Suri","doi":"10.4103/aian.aian_936_24","DOIUrl":"10.4103/aian.aian_936_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"463-465"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707891","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}