Pub Date : 2025-09-01Epub Date: 2025-05-30DOI: 10.4103/aian.aian_147_25
Ravi P Singh, S Rima, Seetam Kumar, Parth Lalaji, Karthik Kulanthaivelu, Anita Mahadevan, T C Yasha, Girish B Kulkarni, Subasree Ramakrishnan, Ajay Asranna, Raghavendra Kenchiah
{"title":"Intersection of Autoimmunity: NMDA Positivity, Hypertrophic Pachymeningitis, and Primary CNS Angiitis in a Single Patient - A Diagnostic Challenge.","authors":"Ravi P Singh, S Rima, Seetam Kumar, Parth Lalaji, Karthik Kulanthaivelu, Anita Mahadevan, T C Yasha, Girish B Kulkarni, Subasree Ramakrishnan, Ajay Asranna, Raghavendra Kenchiah","doi":"10.4103/aian.aian_147_25","DOIUrl":"10.4103/aian.aian_147_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"768-770"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186313","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}
Pub Date : 2025-09-01Epub Date: 2025-08-01DOI: 10.4103/aian.aian_309_25
Mohammed F Ansari, Nitish Kamble, Vikram V Holla, Ravi Yadav, Rohan R Mahale, Pramod K Pal
{"title":"Predictors of Impulse Control Disorders in Patients with Parkinson's Disease.","authors":"Mohammed F Ansari, Nitish Kamble, Vikram V Holla, Ravi Yadav, Rohan R Mahale, Pramod K Pal","doi":"10.4103/aian.aian_309_25","DOIUrl":"10.4103/aian.aian_309_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"784-786"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144758995","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}
Pub Date : 2025-09-01Epub Date: 2025-06-28DOI: 10.4103/aian.aian_247_25
Vishnu K Subramanian, Saranya B Gomathy, Shamir Sella Sugan, Ramkumar Sugumaran, Sunil K Narayan
{"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":"10.4103/aian.aian_247_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"772-775"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611051/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background and objectives: Stroke is the second leading cause of death worldwide, and only 10% of the patients can live their normal lives. As per the Global Burden of Disease Study 2016, the incidence of stroke in India is reported to be 1,175,778 (1 076 048 to 1,274,427) per 100000 person-years. A novel biochemical marker that can predict the stroke outcome can reduce morbidity, especially when thrombolysis cannot be done. Hence, the current study aims to study the role of plasma lysophosphatidic acid (LPA) and CD62P as prognostic markers for acute ischemic stroke.
Methods: This is a prospective observational study. Ninety-six patients who met the inclusion criteria were enrolled. The plasma LPA and CD62P levels were estimated using the enzyme-linked immunosorbent assay and correlated with the Alberta stroke program early computed tomography score (ASPECTS) on CT brain and modified Rankin scale (mRS) at 90 days.
Results: Age, sex, and other risk factors in the ischemic stroke patients did not have any impact on the levels of LPA and CD62P. Both LPA ( P = 0.000) and CD62P ( P = 0.005) showed a positive correlation with mRS after 90 days. The mean LPA was highest for mRS 5 and least for mRS 1, whereas the mean CD62P levels did not correlate with increasing mRS. The ASPECTS showed a significant negative correlation only with LPA.
Conclusions: High LPS and CD62P levels after stroke onset tend to be associated with poor mRS scores at 90 days.
{"title":"Prognostic Value of Plasma Lysophosphatidic Acid and CD62P in the Outcome of Ischemic Stroke.","authors":"Sabeeha Naaz, Swarna Anupama, Thrilok Chander Bingi","doi":"10.4103/aian.aian_83_25","DOIUrl":"10.4103/aian.aian_83_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>Stroke is the second leading cause of death worldwide, and only 10% of the patients can live their normal lives. As per the Global Burden of Disease Study 2016, the incidence of stroke in India is reported to be 1,175,778 (1 076 048 to 1,274,427) per 100000 person-years. A novel biochemical marker that can predict the stroke outcome can reduce morbidity, especially when thrombolysis cannot be done. Hence, the current study aims to study the role of plasma lysophosphatidic acid (LPA) and CD62P as prognostic markers for acute ischemic stroke.</p><p><strong>Methods: </strong>This is a prospective observational study. Ninety-six patients who met the inclusion criteria were enrolled. The plasma LPA and CD62P levels were estimated using the enzyme-linked immunosorbent assay and correlated with the Alberta stroke program early computed tomography score (ASPECTS) on CT brain and modified Rankin scale (mRS) at 90 days.</p><p><strong>Results: </strong>Age, sex, and other risk factors in the ischemic stroke patients did not have any impact on the levels of LPA and CD62P. Both LPA ( P = 0.000) and CD62P ( P = 0.005) showed a positive correlation with mRS after 90 days. The mean LPA was highest for mRS 5 and least for mRS 1, whereas the mean CD62P levels did not correlate with increasing mRS. The ASPECTS showed a significant negative correlation only with LPA.</p><p><strong>Conclusions: </strong>High LPS and CD62P levels after stroke onset tend to be associated with poor mRS scores at 90 days.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"712-717"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144844251","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}
Pub Date : 2025-09-01Epub Date: 2025-10-09DOI: 10.4103/aian.aian_381_25
Soaham Desai, Khushboo Patel
Background: Isolated dystonia, a neurological disorder characterized by abnormal postures and repetitive movements, has a complex etiology involving both genetic and environmental factors. While genetic contributions are acknowledged, the role of environmental triggers in disease expression remains understudied.
Methods: This scoping review adhered to the Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) guidelines and systematically mapped evidence on environmental risk factors for isolated dystonia. A comprehensive search of PubMed/MEDLINE, Web of Science, and Google Scholar from the years 1980 to 2024 identified studies meeting predefined eligibility criteria. Data were extracted using standardized templates, and quality was assessed using the modified Newcastle-Ottawa Scale (NOS).
Results: Nineteen studies met inclusion criteria, with NOS scores ranging from 4/9 to 8/9. Strong associations were identified between peripheral trauma and cervical dystonia (odds ratio), and between prolonged writing (>3 hours/day) and writer's cramp. Moderate associations were found between cranial trauma and blepharospasm and betel nut consumption with oromandibular dystonia. Conversely, tobacco use showed a protective effect against blepharospasm. Early-life exposures demonstrated weak or inconclusive associations, while gene-environment interactions revealed accelerated symptom onset in DYT1 mutation carriers exposed to repetitive tasks ( P = 0.03).
Conclusions: Environmental factors significantly influence the pathogenesis of isolated dystonia through circuit-specific mechanisms. Trauma, occupational exposures, and lifestyle factors emerge as key determinants. These findings highlight significant environmental determinants but also underscore the need for standardized exposure metrics and prospective investigations due to methodological heterogeneity across studies.
背景:孤立性肌张力障碍是一种以异常姿势和重复运动为特征的神经系统疾病,其病因复杂,涉及遗传和环境因素。虽然遗传因素是公认的,但环境因素在疾病表达中的作用仍未得到充分研究。方法:该范围评价遵循系统评价的首选报告项目和扩展范围评价的荟萃分析(PRISMA-ScR)指南,系统地绘制了孤立性肌张力障碍环境风险因素的证据。从1980年到2024年对PubMed/MEDLINE、Web of Science和谷歌Scholar进行全面搜索,确定了符合预定义资格标准的研究。使用标准化模板提取数据,并使用改进的纽卡斯尔-渥太华量表(NOS)评估质量。结果:19项研究符合纳入标准,NOS评分范围为4/9 ~ 8/9。外周创伤和颈肌张力障碍之间存在很强的相关性(优势比),写字时间延长(每天3小时)和写字痉挛之间存在很强的相关性。颅外伤与眼睑痉挛和食用槟榔与下颌肌张力障碍之间存在中度关联。相反,吸烟对眼睑痉挛有保护作用。早期暴露表现出微弱或不确定的相关性,而基因-环境相互作用显示,暴露于重复性任务的DYT1突变携带者的症状发作加速(P = 0.03)。结论:环境因素通过电路特异性机制显著影响孤立性肌张力障碍的发病机制。创伤、职业暴露和生活方式因素是主要的决定因素。这些发现强调了重要的环境决定因素,但也强调了由于研究方法的异质性,需要标准化的暴露度量和前瞻性调查。
{"title":"Environmental Risk Factors in Isolated Dystonia: A Systematic Scoping Review.","authors":"Soaham Desai, Khushboo Patel","doi":"10.4103/aian.aian_381_25","DOIUrl":"10.4103/aian.aian_381_25","url":null,"abstract":"<p><strong>Background: </strong>Isolated dystonia, a neurological disorder characterized by abnormal postures and repetitive movements, has a complex etiology involving both genetic and environmental factors. While genetic contributions are acknowledged, the role of environmental triggers in disease expression remains understudied.</p><p><strong>Methods: </strong>This scoping review adhered to the Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) guidelines and systematically mapped evidence on environmental risk factors for isolated dystonia. A comprehensive search of PubMed/MEDLINE, Web of Science, and Google Scholar from the years 1980 to 2024 identified studies meeting predefined eligibility criteria. Data were extracted using standardized templates, and quality was assessed using the modified Newcastle-Ottawa Scale (NOS).</p><p><strong>Results: </strong>Nineteen studies met inclusion criteria, with NOS scores ranging from 4/9 to 8/9. Strong associations were identified between peripheral trauma and cervical dystonia (odds ratio), and between prolonged writing (>3 hours/day) and writer's cramp. Moderate associations were found between cranial trauma and blepharospasm and betel nut consumption with oromandibular dystonia. Conversely, tobacco use showed a protective effect against blepharospasm. Early-life exposures demonstrated weak or inconclusive associations, while gene-environment interactions revealed accelerated symptom onset in DYT1 mutation carriers exposed to repetitive tasks ( P = 0.03).</p><p><strong>Conclusions: </strong>Environmental factors significantly influence the pathogenesis of isolated dystonia through circuit-specific mechanisms. Trauma, occupational exposures, and lifestyle factors emerge as key determinants. These findings highlight significant environmental determinants but also underscore the need for standardized exposure metrics and prospective investigations due to methodological heterogeneity across studies.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"646-653"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12610967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257089","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}
Pub Date : 2025-09-01Epub Date: 2025-10-13DOI: 10.4103/aian.aian_190_25
Shaomin Zuo, Wenning Yang, Xiaojuan Wang, Milan Zhang, Zeqin Dong, Xin Chen, Wei Li
Background and objectives: To compare the efficacy and safety of telitacicept versus mycophenolate mofetil (MMF) in reducing relapses and disability in adults with neuromyelitis optica spectrum disorder (NMOSD).
Methods: In this retrospective cohort study, we analyzed 41 adults with NMOSD (2015 diagnostic criteria). Patients received ≥6 months of telitacicept or MMF treatment. Primary outcomes were annualized relapse rate (ARR) and relapse-free survival; secondary outcomes included Expanded Disability Status Scale (EDSS) score, CD19 + B-cell count, and safety.
Results: Over a median follow-up of 8 months for telitacicept (n = 15) and 9 months for MMF (n = 26), patients receiving telitacicept exhibited an 86.7% relapse-free rate (13/15) versus 57.6% (15/26) with MMF, with a significantly prolonged time to first relapse (hazard ratio 0.22, 95% confidence interval: 0.05-0.91; P = 0.04). The magnitude of ARR reduction was significantly greater with telitacicept (median ΔARR 2.0 [interquartile range (IQR) 2.0-4.0]) than with MMF (2.0 [1.0-2.0]; P = 0.007). Neurological function improved markedly, evidenced by a 2.5-point reduction (IQR: 2.0-3.0) in EDSS scores with telitacicept versus 0.5 points (IQR: 0.5-1.0) for MMF ( P < 0.001). Mechanistically, telitacicept induced deeper CD19 + B-cell suppression (Δ51.0 cells/μL [42.0-70.0]) than MMF (Δ28.5 cells/μL [8.0-40.2]; P = 0.002). Safety profiles favored telitacicept, with adverse events occurring in 20.0% (3/15) versus 42.3% (11/26) in the MMF group, though no severe events were observed in either cohort.
Conclusion: Both telitacicept and MMF demonstrated favorable clinical efficacy and safety in NMOSD treatment. Compared with MMF, telitacicept exhibits potential advantages and holds promising prospects for clinical application.
{"title":"Efficacy and Safety of Telitacicept and Mycophenolate Mofetil in the Treatment of Neuromyelitis Optica Spectrum Disorders.","authors":"Shaomin Zuo, Wenning Yang, Xiaojuan Wang, Milan Zhang, Zeqin Dong, Xin Chen, Wei Li","doi":"10.4103/aian.aian_190_25","DOIUrl":"10.4103/aian.aian_190_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>To compare the efficacy and safety of telitacicept versus mycophenolate mofetil (MMF) in reducing relapses and disability in adults with neuromyelitis optica spectrum disorder (NMOSD).</p><p><strong>Methods: </strong>In this retrospective cohort study, we analyzed 41 adults with NMOSD (2015 diagnostic criteria). Patients received ≥6 months of telitacicept or MMF treatment. Primary outcomes were annualized relapse rate (ARR) and relapse-free survival; secondary outcomes included Expanded Disability Status Scale (EDSS) score, CD19 + B-cell count, and safety.</p><p><strong>Results: </strong>Over a median follow-up of 8 months for telitacicept (n = 15) and 9 months for MMF (n = 26), patients receiving telitacicept exhibited an 86.7% relapse-free rate (13/15) versus 57.6% (15/26) with MMF, with a significantly prolonged time to first relapse (hazard ratio 0.22, 95% confidence interval: 0.05-0.91; P = 0.04). The magnitude of ARR reduction was significantly greater with telitacicept (median ΔARR 2.0 [interquartile range (IQR) 2.0-4.0]) than with MMF (2.0 [1.0-2.0]; P = 0.007). Neurological function improved markedly, evidenced by a 2.5-point reduction (IQR: 2.0-3.0) in EDSS scores with telitacicept versus 0.5 points (IQR: 0.5-1.0) for MMF ( P < 0.001). Mechanistically, telitacicept induced deeper CD19 + B-cell suppression (Δ51.0 cells/μL [42.0-70.0]) than MMF (Δ28.5 cells/μL [8.0-40.2]; P = 0.002). Safety profiles favored telitacicept, with adverse events occurring in 20.0% (3/15) versus 42.3% (11/26) in the MMF group, though no severe events were observed in either cohort.</p><p><strong>Conclusion: </strong>Both telitacicept and MMF demonstrated favorable clinical efficacy and safety in NMOSD treatment. Compared with MMF, telitacicept exhibits potential advantages and holds promising prospects for clinical application.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"671-677"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12610963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278919","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}
Pub Date : 2025-09-01Epub Date: 2025-05-30DOI: 10.4103/aian.aian_249_25
Manu Vincent, Aswin Mathew Thomas, B Subitha
{"title":"Rare NF140-Positive Nodopathy Masquerading as Fulminant Guillain-Barré Syndrome: A Diagnostic Challenge.","authors":"Manu Vincent, Aswin Mathew Thomas, B Subitha","doi":"10.4103/aian.aian_249_25","DOIUrl":"10.4103/aian.aian_249_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"775-776"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186314","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}
Pub Date : 2025-09-01Epub Date: 2025-10-13DOI: 10.4103/aian.aian_867_25
Soma Basu, A J Hemamalini
{"title":"Author Reply - Indigenous Ketogenic Formula for Pediatric Epilepsy Care.","authors":"Soma Basu, A J Hemamalini","doi":"10.4103/aian.aian_867_25","DOIUrl":"10.4103/aian.aian_867_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"788"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278884","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}
Pub Date : 2025-09-01Epub Date: 2025-10-15DOI: 10.4103/aian.aian_296_25
Pooja Sharma, Jupita Handique, Kriti Kashyap, Akhilesh K Sonakar, Achal K Srivastava, Mohammed Faruq
Abstract: Hereditary ataxias are a group of disorders characterized by clinical manifestations of cerebellar degeneration. Autosomal dominant and recessive forms have been described, and tandem nucleotide repeat expansion are the most prevalent forms of genetic ataxias. In this study, we aimed to characterize single nucleotide mutations in key genes ( SETX , SACS , ATM , AFG3L2 , TTBK2 , and ELOVL5 ) in 230 patients with progressive ataxias. We identified a total of 180 variants, including 8% loss-of-function (LoF) mutations and 39% nonsynonymous substitutions. Pathogenic or likely pathogenic variations were found in 14 subjects (6%), with mutations most frequently observed in ATM and AFG3L2 . Burden analysis showed an increased burden of LoF variation in patients than in controls, with major contribution from the ATM gene. Our findings emphasize the genetic heterogeneity and requirement of a broader panel for identification of diagnostic variations, and underscore the necessity of functional studies to improve genetic diagnosis in hereditary ataxias.
{"title":"Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.","authors":"Pooja Sharma, Jupita Handique, Kriti Kashyap, Akhilesh K Sonakar, Achal K Srivastava, Mohammed Faruq","doi":"10.4103/aian.aian_296_25","DOIUrl":"10.4103/aian.aian_296_25","url":null,"abstract":"<p><strong>Abstract: </strong>Hereditary ataxias are a group of disorders characterized by clinical manifestations of cerebellar degeneration. Autosomal dominant and recessive forms have been described, and tandem nucleotide repeat expansion are the most prevalent forms of genetic ataxias. In this study, we aimed to characterize single nucleotide mutations in key genes ( SETX , SACS , ATM , AFG3L2 , TTBK2 , and ELOVL5 ) in 230 patients with progressive ataxias. We identified a total of 180 variants, including 8% loss-of-function (LoF) mutations and 39% nonsynonymous substitutions. Pathogenic or likely pathogenic variations were found in 14 subjects (6%), with mutations most frequently observed in ATM and AFG3L2 . Burden analysis showed an increased burden of LoF variation in patients than in controls, with major contribution from the ATM gene. Our findings emphasize the genetic heterogeneity and requirement of a broader panel for identification of diagnostic variations, and underscore the necessity of functional studies to improve genetic diagnosis in hereditary ataxias.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"738-743"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298209","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}
Pub Date : 2025-09-01Epub Date: 2025-10-15DOI: 10.4103/aian.aian_748_25
Faheem Arshad, Suvarna Alladi
Abstract: Alzheimer's disease (AD) is the most prevalent form of dementia worldwide and the leading cause of disability in the aging population. While several disease-modifying therapies, particularly anti-amyloid monoclonal antibodies, have recently gained approval, their clinical accessibility remains limited, especially in low- and middle-income countries (LMICs). A major prerequisite for initiating these treatments is a biomarker-based diagnosis, typically involving cerebrospinal fluid (CSF) analysis or amyloid/tau positron emission tomography (PET) imaging. However, these biomarkers are often costly, invasive, or unavailable in resource-constrained settings, emphasizing the urgent need for affordable, scalable, and validated biomarkers to enable early and accurate diagnosis and intervention. This review critically examined the current landscape of approved disease-modifying drugs for AD, their efficacy, safety profiles, and implementation challenges in LMICs. It also explored emerging therapeutic strategies beyond amyloid- and tau-targeting agents, including plasma exchange, synaptic modulators, and gene-based approaches. Finally, it discussed the future trajectory of AD therapeutics, emphasizing the necessity of strengthening healthcare systems and developing globally inclusive research frameworks to ensure equitable access to disease-modifying treatments.
{"title":"Disease-Modifying Drugs for Alzheimer's Disease: Bending the Curve.","authors":"Faheem Arshad, Suvarna Alladi","doi":"10.4103/aian.aian_748_25","DOIUrl":"10.4103/aian.aian_748_25","url":null,"abstract":"<p><strong>Abstract: </strong>Alzheimer's disease (AD) is the most prevalent form of dementia worldwide and the leading cause of disability in the aging population. While several disease-modifying therapies, particularly anti-amyloid monoclonal antibodies, have recently gained approval, their clinical accessibility remains limited, especially in low- and middle-income countries (LMICs). A major prerequisite for initiating these treatments is a biomarker-based diagnosis, typically involving cerebrospinal fluid (CSF) analysis or amyloid/tau positron emission tomography (PET) imaging. However, these biomarkers are often costly, invasive, or unavailable in resource-constrained settings, emphasizing the urgent need for affordable, scalable, and validated biomarkers to enable early and accurate diagnosis and intervention. This review critically examined the current landscape of approved disease-modifying drugs for AD, their efficacy, safety profiles, and implementation challenges in LMICs. It also explored emerging therapeutic strategies beyond amyloid- and tau-targeting agents, including plasma exchange, synaptic modulators, and gene-based approaches. Finally, it discussed the future trajectory of AD therapeutics, emphasizing the necessity of strengthening healthcare systems and developing globally inclusive research frameworks to ensure equitable access to disease-modifying treatments.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"640-645"},"PeriodicalIF":1.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12610953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298223","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}