Annals of Indian Academy of Neurology最新文献

{"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192400/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192398/pdf/","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":"OA","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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192396/pdf/","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":"OA","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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192368/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Direction-Reversing Positional Nystagmus in Typical Posterior Semicircular Canalolithiasis with Ipsicanal Transformation via Non-ampullary Arm Canalolithiasis to Posterior Cupulolithiasis.","authors":"Ajay K Vats, Andrea Castellucci, Sudhir Kothari, Shreya Vats, Manjiri Patil","doi":"10.4103/aian.aian_842_24","DOIUrl":"10.4103/aian.aian_842_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"478-479"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959374","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":"Expression of Human Myxovirus Resistance Protein 1 (MxA) in Shunt Infections.","authors":"Reza Syahputra, Dian Kesumapramudya Nurputra, Agung Triono, Elisabeth Siti Herini","doi":"10.4103/aian.aian_895_24","DOIUrl":"10.4103/aian.aian_895_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"447-450"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762608","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":"ICP-IAN 100 Questions in Neurological Practice - 3.","authors":"Sita Jayalakshmi","doi":"10.4103/aian.aian_418_25","DOIUrl":"10.4103/aian.aian_418_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"483"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144224085","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":"Unmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications-Challenges in Diagnosis and Management.","authors":"Vykuntaraju K Gowda, Priyanka A Nayak, Uddhava V Kinhal, Amaresh Roy, Varunvenkat M Srinivasan","doi":"10.4103/aian.aian_920_24","DOIUrl":"10.4103/aian.aian_920_24","url":null,"abstract":"<p><strong>Abstract: </strong>Acute intermittent porphyria (AIP) is a dominant mendelian disorder caused due to deficiency of the enzyme porphobilinogen deaminase. It classically presents with pain abdomen, hypertensive crisis, electrolyte imbalance, mostly hyponatremia, and neuropsychiatric involvement. We report a case of a 12-year-old boy with AIP who experienced an acute crisis and later developed altered sensorium and seizures. Upon evaluation, he was found to have severe hyponatremia, which was secondary to the syndrome of inappropriate antidiuretic hormone secretion. His condition was corrected with intravenous hypertonic saline, and his sodium levels normalized over 2-3 days. Despite the successful correction of sodium levels, he developed extrapyramidal symptoms a week later. Magnetic resonance imaging of the brain revealed extrapontine myelinolysis. He was treated with intravenous steroids, which led to significant improvement. At 1-month follow-up, there were no neurological deficits.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"437-439"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676697","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":"Utility of High-Resolution 3 T MR Neurography in Peripheral Nerve Pathologies.","authors":"Devinderpal Singh Dhanota, Didar Singh, Kavita Saggar, Archana Ahluwalia, Monika Singla","doi":"10.4103/aian.aian_751_24","DOIUrl":"10.4103/aian.aian_751_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Magnetic resonance neurography (MRN) allows for the direct visualization of nerves, which can be instrumental in diagnosing, characterizing, and localizing peripheral nerve disorders. We planned to conduct a study on the patients of peripheral nerve injuries who were referred for MRN and to compare the findings of MRN to those of nerve conduction studies (NCS) on various focal nerve disorders.</p><p><strong>Methods: </strong>This prospective study was conducted over 1½ years, involving 58 subjects with clinically diagnosed focal peripheral nerve pathologies who were referred for MRN to the Department of Radiodiagnosis and Imaging. The range of focal peripheral nerve pathologies detected using MRN was correlated and compared to NCS and/or electromyography results, as well as to surgical and/or histopathological results, wherever available. The Chi-squared (χ²) test and Fisher's exact test were used to evaluate the association between MRN and NCS outcomes.</p><p><strong>Results: </strong>The study identified a broad spectrum of peripheral nerve pathologies. Out of 58 subjects, abnormalities were found in 52 (89.6%) subjects, whereas six patients (10.3%) did not show any significant abnormalities. Fifty patients (86.3%) showed abnormalities on both MRN and NCS, while five patients (8.6%) did not show any abnormalities on either MRN or NCS. Two patients (3.4%) showed abnormalities on MRN but had normal NCS results, and in one case (1.7%), MRN was normal but NCS showed an abnormality. Out of the 58 MRN examinations, 25 were found to have brachial plexus involvement.</p><p><strong>Conclusion: </strong>MRN is a highly sensitive tool for evaluating peripheral nerve pathologies. Its correlation with NCS and intraoperative findings further supports its clinical utility. The 3 T MRN should be considered a key imaging modality in the diagnostic process for peripheral nerve pathologies. In addition, it serves as a valuable guide for planning therapeutic interventions and assessing prognosis in various patient subsets.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"371-377"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144109522","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 Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.","authors":"Taha Reşid Özdemir, Pınar Gençpınar, Roza Sarıteke, Safa M Dagdas, Senay Haspolat, Bedile I Tiftikcioglu, Nihal Olgaç Dündar, Berk Özyılmaz","doi":"10.4103/aian.aian_1068_24","DOIUrl":"10.4103/aian.aian_1068_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by genetic and clinical diversity. It often overlaps with other neurological conditions, such as cerebellar ataxia, which complicates diagnosis and highlights the importance of molecular genetic testing. This study aimed to investigate the molecular genetic basis of HSP in patients with clinical suspicion by identifying germline mutations in HSP-related genes and expanding the genetic spectrum of the disease through the discovery of novel variants.</p><p><strong>Methods: </strong>Between 2019 and 2024, 74 patients from 71 families underwent genetic evaluation for germline mutations in 41 HSP-associated genes using a targeted next-generation sequencing panel, with Sanger sequencing performed on family members of patients with identified pathogenic variants to confirm segregation.</p><p><strong>Results: </strong>We identified 23 variants, including six novel likely pathogenic (LP) variants, one novel variant classified as variant of uncertain significance (VUS)-LP, seven known pathogenic variants, and nine VUS.</p><p><strong>Conclusions: </strong>Overlapping clinical symptoms and laboratory findings between HSP and other neurological disorders frequently delay diagnosis, emphasizing the necessity of evaluating germline mutations in HSP genes for patients with suspected HSP to achieve a precise diagnosis. This study also contributes to the literature by reporting seven novel variants, enhancing the genetic understanding of HSP.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"353-362"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186311","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}