Annals of Indian Academy of Neurology最新文献

{"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":"","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":"","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":"","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":"","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":"","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":"","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":"","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":"","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":"","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":"","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":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated Starfield Pattern and the Type 1 Cerebral Fat Microembolism: A Radiological Perspective.","authors":"Sandhya Manorenj, Sara Sravan Kumar, Sravan Kumur Marupaka, Farah Naaz","doi":"10.4103/aian.aian_1042_24","DOIUrl":"10.4103/aian.aian_1042_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"435-436"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246075","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":"Spectrum of Neurological Manifestations of HHV-6 Encephalitis in Immunocompetent Children - A Retrospective Study at a Tertiary Care Center in South India.","authors":"Dona T Thomas, Kalpana Devadathan, Greeshma Baby, Mohammed Pa Kunju, Prameela Joji","doi":"10.4103/aian.aian_717_24","DOIUrl":"10.4103/aian.aian_717_24","url":null,"abstract":"<p><strong>Background: </strong>Human Herpes Virus 6 (HHV6) can cause severe neurological manifestations in immunocompromised individuals. However, there is sparse data regarding this in immunocompetent children.</p><p><strong>Objective: </strong>To describe the spectrum of neurological manifestations of HHV 6 infection and outcome in immunocompetent children admitted with suspected meningoencephalitis from January 2017 to December 2023.</p><p><strong>Methodology: </strong>We retrospectively analysed the electronic medical records of children admitted for suspected meningoencephalitis in a tertiary care Pediatric Neurology centre in South India. The children whose cerebrospinal fluid (CSF) was found to be positive for HHV6 DNA in film array meningoencephalitis (FA -ME) panel were included.</p><p><strong>Results: </strong>204 /416 children with suspected meningoencephalitis were included in the study. HHV 6 was detected in 12 children. The median age was 19 months (Range - 6 months to 16 years). 4 (33%) of them were classified as febrile status. 5 (42%) children had meningoencephalitis, and one had aseptic meningitis. One child each had features of probable acute demyelinating encephalo myelitis (ADEM) and anti NMDA receptor encephalitis. 9 (75%) children had uneventful clinical recovery, one child died, one child with probable ADEM had extrapyramidal signs at discharge, which improved completely at one year follow up and the baby with autoimmune encephalitis had significant neurological deficits.</p><p><strong>Conclusion: </strong>HHV 6 can cause significant neurological problems, with significant morbidity and mortality in immunocompetent children also.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"400-405"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952421","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":"Subacute Sclerosing Panencephalitis: A Clinical, Radiological, and Outcome Study of 144 Cases.","authors":"Jerry A George, Venugopalan Y Vishnu, Roopa Rajan, Mamta B Singh, Rohit Bhatia, Shariq Shah, Ajay Garg, Pradeep Venkatesh, Achal K Srivastava, Manjari Tripathi, Mv Padma Srivastava, Anu Gupta","doi":"10.4103/aian.aian_1048_24","DOIUrl":"10.4103/aian.aian_1048_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Subacute sclerosing panencephalitis (SSPE) is a progressive encephalitis caused by persistent measles virus infection and is mostly described as small case series in literature. We aimed to describe the clinical spectrum, radiological features, outcomes, and prognostic factors in patients with SSPE and provide a comparison of childhood- versus late-onset disease.</p><p><strong>Methods: </strong>An observational study was conducted in a tertiary hospital in India, documenting the spectrum and functional outcome [modified Rankin Scale (mRS)] of patients with SSPE.</p><p><strong>Results: </strong>We enrolled 144 patients (35 prospective and 109 retrospective, mean age: 16.7 ± 5.0 years, 79.9% males) of SSPE (Dyken's criteria), who presented between 2015 and 2022. Overall, we found good outcome (mRS ≤3) in 23.3% of cases and mortality in 48% (follow-up: n = 73/144, range 6-95 months). Short-term follow-up (prospective group, 32/35) revealed stabilization (no improvement or worsening of mRS) in 31.3% of patients, improvement of mRS grade in 28.1% patients, and worsening in 40.6% of patients. Intrathecal interferon was prescribed in majority of these cases, and 65.6% (21/32) were compliant to therapy. Frequency of good outcome reduced with longer follow-up duration (34.4% when followed up to 11 months, 22.2% for a follow-up duration of 24-60 months, and 10% for duration longer than 60 months). The studied outcome predictors were not statistically significant. Late-onset cases were different from childhood-onset cases with respect to some clinical features [more focal deficits ( P = 0.043), less-frequent seizures ( P = 0.003)], radiological features [more frequent cortical lesions ( P = 0.44) and cerebral atrophy ( P = 0.52)], and mortality [late-onset cases: 55.2% vs. childhood-onset cases: 33.3% ( P = 0.08)].</p><p><strong>Conclusion: </strong>We found differences in the presentation of childhood- versus late-onset disease. Overall, the prognosis was not good, with increasing mortality observed with increasing duration of follow-up. Short-term outcomes were better. Future studies can look at the effect of immunomodulators on long-term outcomes in a larger sample size.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"346-352"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144155949","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 Clinical Study on the Utility of Muscle Biopsy in Patients with Suspected Myopathy.","authors":"Sudhakar Karunakaran, Abraham Kuruvilla, Muralidharan Nair, Sruthi S Nair, Deepti Narasimhaiah","doi":"10.4103/aian.aian_934_24","DOIUrl":"10.4103/aian.aian_934_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>The role of muscle biopsy needs to be redefined in an era where genetic studies have largely supplanted the need for a pathological diagnosis. The objective of the study was to evaluate the utility of muscle biopsy in suspected myopathies in terms of diagnostic confirmation and modifying therapy in a developing country.</p><p><strong>Methods: </strong>We conducted a retrospective observational study of patients who underwent muscle biopsy in our center between April 2017 and 2019. The diagnostic utility and therapeutic impact of muscle biopsy were assessed descriptively and using an ordinal score. We further analyzed the correlation of the pathological diagnosis with the genetic and immunological data.</p><p><strong>Results: </strong>Among the 70 patients included in the study over a 2-year period, 33 (47.1%) were aged 18 years or less and the mean age was 23.4 (±16.2) years. A specific diagnosis or diagnostic category could be established in 39 (55.7%) of all patients and 21 (63.6%) among pediatric patients by muscle biopsy. The most common categories were muscular dystrophies in 27 (38.6%) patients and inflammatory myopathies in seven (10%) patients. Mitochondrial myopathy was confirmed in two (2.9%), while three (4.3%) had other specific diagnosis and 31 (44.2%) had indeterminate/normal biopsy reports. Muscle biopsy confirmed the pre-biopsy diagnosis in 29 (41.4%) patients and changed the clinical diagnosis in 16 (22.9%) patients. Category-wise, the change in pre-biopsy diagnosis was significant only in suspected mitochondrial myopathies, but not in other categories.</p><p><strong>Conclusions: </strong>Muscle biopsy helped in securing a specific diagnosis in approximately one-half of the patients. This study underscores the enduring relevance of muscle biopsy in settings where resources for advanced genetic testing and data analysis are constrained.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"363-370"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186310","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}