Annals of Indian Academy of Neurology最新文献

{"title":"Reflex Bathing Epilepsy in a Boy with UPF3B -Related Disorder.","authors":"Singanamalla Bhanudeep, Bhargav Ryakala","doi":"10.4103/aian.aian_1049_25","DOIUrl":"10.4103/aian.aian_1049_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"309-310"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146028212","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":"Multiphasic Infarcts in a Young Brain Secondary to Thrombotic Thrombocytopenic Purpura: Looking Beyond the Usual Suspects.","authors":"N Javagal A Thejas, Arka P Chattopadhyay, Raghavendra Kenchiah, Hima Pendharkar, Rohan R Mahale, Pooja Mailankody, Hansashree Padmanabha","doi":"10.4103/aian.aian_902_25","DOIUrl":"10.4103/aian.aian_902_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"299-302"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147375873","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":"Correspondence: \"Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Comparative Study of Magnetic Resonance Neurography and High-Resolution Nerve Ultrasound in the Assessment of Brachial Plexus\".","authors":"T K Abins, Ravi Gaur, Nitesh M Gonnade, Nagma Sheenam","doi":"10.4103/aian.aian_1158_25","DOIUrl":"10.4103/aian.aian_1158_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"310-312"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147442235","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":"Hirayama Disease: Latest Insights into an Intriguing Disorder.","authors":"Dipti Baskar, Atchayaram Nalini, Seena Vengalil","doi":"10.4103/aian.aian_623_25","DOIUrl":"10.4103/aian.aian_623_25","url":null,"abstract":"<p><strong>Abstract: </strong>Hirayama disease (HD) is a cervical flexion-induced myelopathy that causes asymmetrical distal upper limb atrophy and weakening. It usually affects males, with onset in early adolescence, and progression occurs over 3-5 years, resulting in irreversible functional deficits. In addition to classical HD, several rarer phenotypes are described, including distal bimelic amyotrophy, lower limb, proximal, and upper motor neuron variants. Dynamic flexion magnetic resonance imaging is critical in the diagnosis, with distinctive characteristics such as significant epidural flow voids and anterior displacement of the posterior dural sac involving lower cervical segments, with sensitivity and specificity of 93% and 98%, respectively. In progressive cases, apart from conservative management with a cervical collar, surgical management is considered early, with the ideal approach being anterior cervical discectomy and fusion with plating. This review aims to address the latest insights in the pathophysiology, HD variants, spine imaging, and various surgical procedures in the management and prevention of serious residual limb weakness.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"141-149"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147653653","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":"Successful Management of Refractory Seizures in a Pediatric Patient with DLG3-Associated Epilepsy Using the Ketogenic Diet.","authors":"Bagath S Balaji, Soma Basu, Ranjith K Manokaran, R Lakshmi Narasimhan, Hemamalini A Janardhanam","doi":"10.4103/aian.aian_870_25","DOIUrl":"10.4103/aian.aian_870_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"292-296"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147275545","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":"Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.","authors":"Deepak Amalnath, Jayaram Saibaba, Vaibhav Wadwekar, Krishnan Nagarajan, Santhakumar Senthilvelan","doi":"10.4103/aian.aian_843_25","DOIUrl":"10.4103/aian.aian_843_25","url":null,"abstract":"<p><strong>Abstract: </strong>Mitochondrial DNA maintenance defects (MDMD) are rare genetic disorders that typically present in infancy but can manifest later with multi-organ involvement. We describe four MDMD cases (age 19-25) with distinct clinical and genetic profiles and delayed diagnosis. Two patients with mitochondrial neurogastrointestinal encephalomyopathy (homozygous TYMP variants: c.454G>T, c.866A>C) exhibited cachexia, ptosis, neuropathy, and confluent white matter hyperintensities leukodystrophy. Two others with MPV17 (c.293C>T) presented with neuromyopathy and hepatosplenomegaly; one showed novel concentric ring lesions on magnetic resonance imaging (MRI). Despite severe white matter changes/leukodystrophy, cognition was preserved. Diagnoses were delayed due to atypical gastrointestinal or neuromuscular symptoms. This series highlights the diagnostic challenge of MDMD and underscores that it should be considered in adolescents or young adults with unexplained neuropathy, white matter hyperintensities/leukodystrophy, or cachexia, even without classic hepatic or encephalopathic features. Genetic testing is essential for diagnosis, as phenotypic variability often obscures underlying MDMD. Our findings underscore the need for increased awareness of this delayed-diagnosis presentation to enable timely intervention.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"261-265"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145931930","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":"Contrast-Induced Neurotoxicity: A Rare and Poorly Understood Entity.","authors":"Vivek Gupta, Navjeet Kaur, Rajeev Goel, Amit Shankar","doi":"10.4103/aian.aian_614_25","DOIUrl":"10.4103/aian.aian_614_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"271-274"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147589475","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":"Clinical Profile and Prognostic Determinants in Central Nervous System Tuberculosis: An Observational Study from a Tertiary Neurology Centre in India.","authors":"Suman K Sahu, Rajinder K Dhamija, Sonali Maheshwari, Ashwin K Panda, Aldrin Anthony DungDung, Sarabjeet Khurana, Monali Chaturvedi, Siddharth Maheshwari","doi":"10.4103/aian.aian_1063_25","DOIUrl":"10.4103/aian.aian_1063_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>Central nervous system tuberculosis (CNS TB) is a major cause of neurological morbidity in developing countries, with diverse clinical presentations. This study aimed to characterize the demographic and clinical profile of patients with CNS TB at a tertiary neurology center in India and to identify key clinical, laboratory, and radiological predictors of prognosis.</p><p><strong>Methods: </strong>A prospective observational study was conducted between August 2023 and January 2025 on 110 patients with CNS TB at a tertiary care center. Demographic, clinical, neuroimaging, cerebrospinal fluid (CSF), systemic laboratory data, and cartridge-based nucleic acid amplification test (CBNAAT) findings were analyzed. Functional outcome was assessed using the modified Rankin Scale at the 9-month follow-up.</p><p><strong>Results: </strong>Of 110 patients, 56.4% were female; the mean age was 29.86 ± 11.23 years, with 84% being younger than 40 years. Common features included meningeal signs (92.7%), headache (90.9%), fever (88.2%), altered sensorium (83.6%), and seizures (33.6%). Cranial nerve palsies occurred in 28.2% patients, mainly the sixth nerve. Pulmonary TB was present in 23.6% patients. Neuroimaging showed tuberculomas (37.3%), hydrocephalus (27.3%), infarcts (20%), and basal exudates (11.8%). CSF analysis revealed lymphocytic pleocytosis (mean 173 cells/mm³), elevated protein (182.7 mg/dL), and low glucose (mean CSF/plasma ratio 0.31). CBNAAT was positive in 18.2% subjects, with 16.36% being rifampicin-sensitive and rifampicin resistance was observed in 0.9%. Poor outcome was associated with increasing age, longer duration of illness, cranial neuropathy, hydrocephalus, and paradoxical reaction.</p><p><strong>Conclusions: </strong>CNS TB in our cohort predominantly affected young adults and presented with classical meningeal features and diverse neuroimaging abnormalities. Microbiological confirmation remained limited, underscoring reliance on clinical-radiological diagnosis. Poor outcome was associated with increasing age, longer duration of illness, cranial neuropathy, hydrocephalus, and paradoxical reaction.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"217-221"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147653631","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":"Community Informal Care for Neurological Disorders: Viewpoint for India.","authors":"Nitin Thyagaraja, V Sayvithaa Shalini, Girish N Rao, Suvarna Alladi, Rajani Parthasarathy","doi":"10.4103/aian.aian_1064_25","DOIUrl":"10.4103/aian.aian_1064_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"165-171"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147653675","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":"Onasemnogene Abeparvovec in Early-Onset Spinal Muscular Atrophy: An Indian Experience.","authors":"Neelu Desai, Saheli Roy, Franzina Coutinho, Usha Kasar","doi":"10.4103/aian.aian_861_25","DOIUrl":"https://doi.org/10.4103/aian.aian_861_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder with a grave prognosis. Gene replacement therapy has significantly altered the disease trajectory. This study presents real-world evidence of the efficacy and safety of onasemnogene abeparvovec (OA) in children below 2 years of age from India.</p><p><strong>Methods: </strong>This single-centre, prospective cohort study includes longitudinal data of patients treated with OA for over 18 months. All patients diagnosed with SMA under 2 years of age were enrolled for OA through either the Global Managed Access Program or via commercial procurement. Once selected, patients were admitted for OA infusion, with close monitoring for adverse effects and blood parameters. Patients were followed prospectively to assess motor milestones and functional motor scores, ventilator and feeding support requirements, and hospitalization frequency.</p><p><strong>Results: </strong>Thirteen children received OA over the study period. Three died within a month-two likely due to the severity of the underlying disease and one from an unknown cause. Transaminitis and transient thrombocytopenia were frequently observed but managed successfully. Most patients showed gains in motor milestones during follow-up; the remainder maintained their baseline. No new ventilatory or feeding support was required. One child was weaned from permanent ventilation and gastrostomy to predominantly oral feeding, and another transitioned from nasogastric to oral feeds. Caregivers reported clinically meaningful improvement in 50% of patients.</p><p><strong>Conclusions: </strong>OA has transformed the landscape for children with early-onset SMA, enabling the achievement of motor milestones previously considered unattainable. However, the chronic nature of the disease necessitates long-term multidisciplinary care.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"29 2","pages":"197-205"},"PeriodicalIF":1.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147832738","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}