Annals of Indian Academy of Neurology最新文献

{"title":"Late-Onset Charcot-Marie-Tooth Type 2 Patient: MME Gene Mutation.","authors":"Kübra Işık, Kubra Altıner, Beste Dağdeviren Boz, Esra Acıman Demirel, Hüseyin T Atasoy","doi":"10.4103/aian.aian_1219_25","DOIUrl":"10.4103/aian.aian_1219_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"656-658"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148418177","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":"A Prospective Study on Autonomic Functions in Idiopathic Inflammatory Myopathies: The AFIIM Study.","authors":"M M Samim, Ganagarajan Inbaraj, Talakad N Sathyaprabha, Ashita Barthur, Seena Vengalil, Saraswati Nashi, Deepak Menon, Nandan Chandregowda, Dipti Baskar, Vidya Nittur, Priya Treesa Thomas, Atchayaram Nalini","doi":"10.4103/aian.aian_1031_25","DOIUrl":"10.4103/aian.aian_1031_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>Dysautonomia in idiopathic inflammatory myopathies (IIM) is an underrecognized and poorly characterized manifestation, despite its potential implications for disease prognosis and clinical management. In this study, we assessed autonomic dysfunction in patients with IIM and investigated its correlation with cardiac imaging biomarkers based on cardiac magnetic resonance imaging (CMRI).</p><p><strong>Methods: </strong>The study recruited clinically suspected IIM patients aged 10-60 years and age- and sex-matched healthy controls. Evaluations included myositis disease activity assessment tool (MDAAT), autonomic function testing (AFT), tilt table test (TTT), and CMRI with multiparametric mapping.</p><p><strong>Results: </strong>Among 31 diagnosed cases of IIM, 28 patients underwent AFT and TTT. Of these, 12 had dermatomyositis, 7 had overlap myositis, 7 had immune-mediated necrotizing myopathy, and 2 had anti-synthetase syndrome. The mean age of onset was 33±12.92 years, with an average illness duration of 16.63±19.43 months, and a female predominance (F:M = 2.1:1). The patients exhibited a lower median total autonomic power (563.2, interquartile range [IQR] = 209.6-1964.6 vs 1606.5, IQR = 1048.6-2676; P = 0.003). The TTT was positive in 10.9% cases. The mean standard deviation of normal-to-normal intervals (SDNN) was lower among the patients (31.7 ± 22.3 vs 43.4 ± 13.7; P = 0.023). SDNN and total autonomic power were negatively correlated with native-T1-mapping (ρ = -0.537, P = 0.009; ρ = -0.638, P = 0.007). An SDNN cut-off of ≤28.68 had a sensitivity of 83.3% and specificity of 76.0% (area under the curve [AUC] = 0.773, P = 0.030), whereas a total power of ≤725.81 had a sensitivity of 83.3% and specificity of 74.0% (AUC = 0.760, P = 0.039) in diagnosing cardiac involvement in IIM.</p><p><strong>Conclusions: </strong>In this first-of-its-kind study integrating AFT and TTT with CMR to evaluate IIM, patients demonstrated significant autonomic dysfunction, with AFT parameters showing a correlation with CMR findings, thus indicating their potential as a simple predictor of cardiac involvement.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"544-552"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148350348","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":"Dystonic Head Tremor as a Presenting Feature of FMR1 Premutation: A Case Report.","authors":"Farsana Mustafa, Divyani Garg, Ayush Agarwal, Ajay Garg, Achal K Srivastava","doi":"10.4103/aian.aian_1184_25","DOIUrl":"10.4103/aian.aian_1184_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"646-649"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147353472","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":"Distal Myopathy and Kyphoscoliosis Associated with a Kyphoscoliosis Peptidase Gene Mutation: A Rare Case.","authors":"Pelin Y Yeşildaş, Betül Özenç","doi":"10.4103/aian.aian_1194_25","DOIUrl":"10.4103/aian.aian_1194_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"642-643"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147832545","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":"Finnish Variant of Gelsolin Amyloidosis in a South Indian Family: Clinical, Genetic, Ophthalmological, and Histopathological Findings.","authors":"Muddasu S Keerthipriya, Ananthapadmanabha Kotambail, Shilpa Rao, Roshny John, Madhusudhan Deekshitha, Chaitra Naik, Dipti Baskar, Vinay Murthy, Roopashree Matada, Geethanjali Chillal, Dadimudike C Janardhan, Seena Vengalil, Atchayaram Nalini","doi":"10.4103/aian.aian_1210_25","DOIUrl":"10.4103/aian.aian_1210_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"653-656"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147832590","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":"Fungus Before the Fire: Cryptococcal Meningitis Reveals Underlying Follicular Lymphoma.","authors":"Yatharth Dixit, Abeer Goel, Debajyoti Chatterjee, Karthik Vinay Mahesh","doi":"10.4103/aian.aian_1116_25","DOIUrl":"10.4103/aian.aian_1116_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"649-651"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148161564","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":"Subtle Signals of Severe Disease: Central Nervous System Hemophagocytic Lymphohistiocytosis.","authors":"B C Rohan, Supriya Kushwah, Shikha Jain, Rupali Rokade, Abhijit Choudhary, Meenakshi Girish, Vishvdeep Khushoo","doi":"10.4103/aian.aian_1128_25","DOIUrl":"10.4103/aian.aian_1128_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"644-646"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544890/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148598033","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":"Status Dystonicus: An Updated Review on Diagnosis, Pathophysiology, and Management.","authors":"Vedang N Desai, Arunav Garg, Arnesh Bhattacharya, Mahak Golani, Debashish Chowdhury","doi":"10.4103/aian.aian_1122_25","DOIUrl":"10.4103/aian.aian_1122_25","url":null,"abstract":"<p><p>Status dystonicus (SD), also called dystonic storm or dystonic crisis historically, represents a rare and life-threatening exacerbation of dystonia characterized by continuous (tonic) or phasic rapidly recurring dystonic spasms. Common triggers include infections, abrupt changes in medication, and metabolic stress, among others, and necessitate early recognition with multidisciplinary management to prevent multisystemic failure or dysfunction. SD arises in patients with generalized dystonia, more commonly in those with secondary causes, and is associated with basal ganglia dysfunction and predominantly dopaminergic disturbances. The Dystonia Severity Action Plan is a widely accepted staging tool that requires bedside assessment and helps inform therapeutic decisions and intervention levels. Management principles center on identifying and removing triggers, optimizing sedation and airway management, and administering disease-specific therapies. The review aims to provide an overview of the clinical spectrum, the physiological basis, commonly described precipitating factors, and updated management strategies for SD, highlighting a practical approach to the early identification of the syndrome and the bundling of care. A narrative review of peer-reviewed literature from PubMed and Scopus databases was conducted, with emphasis on publications covering etiopathogenesis, risk factors, clinical grading systems, therapeutic options, and outcomes. Key consensus guidelines and case series were appraised. It is evident that early diagnosis and triage, with adequate management, are key to improving survival and neurological outcomes in SD. Adoption of standardized clinical pathways and multicenter data reports will help improve understanding of SD's natural history, clinical evaluation, and therapeutic efficacy across different etiologies.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"501-509"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705191","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":"Familial Anti-N-Methyl-D-Aspartate Receptor Encephalitis-A Tale of Two Sisters.","authors":"Praveen Kumar Yada, Sudheer Pachipala, Vyshnavi Jamalapuram, Anuja Patil, Sita Jayalakshmi","doi":"10.4103/aian.aian_1263_25","DOIUrl":"10.4103/aian.aian_1263_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"660-662"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147697383","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":"Pupillary Hippus: A Rare Manifestation of Nonconvulsive Status Epilepticus in a Child with Ivermectin Poisoning.","authors":"Anukriti Agnihotry, Aditi Gupta, Neethu Ravi, Sarthak Chakrabarti, Prateek K Panda, Indar K Sharawat","doi":"10.4103/aian.aian_1279_25","DOIUrl":"10.4103/aian.aian_1279_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"668-669"},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147497378","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}