Neurology India最新文献

{"title":"Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.","authors":"Hari Shankar Kumar, Nidhi Shah, Parth Shah, Udhaya Kotecha, Mehul Mistri, Bushra Jarullah","doi":"10.4103/neurol-india.Neurol-India-D-24-00552","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-24-00552","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia type 3 (SCA3) is a neuromuscular disorder (NMD) that is a complicated and progressive genetic disorder. SCA3 is predominantly caused by repeat expansions (REs) of short tandem repeats (STRs). SCA3 is caused by a CAG repeat expansion of the ATXN3 gene and is transmitted in an autosomal dominant manner and located on chromosomal position 14q32.</p><p><strong>Objective: </strong>The objective of this study was to identify the ATNX3 gene and assess the clinical accuracy of whole genome sequencing (WGS) in finding REs in previously undiagnosed patients with SCA3 for better management.</p><p><strong>Methods and materials: </strong>Thirty-three referral cases for SCA3 were analyzed using WGS and triplet-repeat PCR (TP-PCR) techniques to detect REs for the ATXN3 gene.</p><p><strong>Results: </strong>A case of SCA3 was discovered to be positive for the ATXN3 gene for 59 CAG REs revealed by WGS and validated by TP-PCR. This mutation was found in a 26-year-old male patient who had previously been undiagnosed by other genetic tests.</p><p><strong>Conclusion: </strong>To identify REs in the ATXN3 gene by validating WGS with previously inconclusive genetic tests, the study propose that WGS could potentially be implemented as the frontline, cost-effective, less turnaround time molecular testing for more accurate diagnoses and better-informed treatment strategies.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cervical Actinomycosis, a Throttling Compressive Myelopathy.","authors":"Yeole Ujwal, A R Prabhuraj, Paul Paramita, Mahadevan Anita","doi":"10.4103/neuroindia.NI_432_20","DOIUrl":"https://doi.org/10.4103/neuroindia.NI_432_20","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"383-385"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Genotype in Early Onset Atypical Absence Epilepsy.","authors":"Kiren G Koshy, Alfiya Fasaludeen, Ramshekhar N Menon","doi":"10.4103/neurol-india.Neurol-India-D-24-00489","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-24-00489","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"361-364"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subarachnoid Hemorrhage Secondary to Aneurysm Rupture in a Patient with Osteogenesis Imperfecta with COL1A1 Mutation.","authors":"Medha A Vyas, Shrey Jain, Ajit K Sinha","doi":"10.4103/neuroindia.NI_542_20","DOIUrl":"https://doi.org/10.4103/neuroindia.NI_542_20","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"386-388"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebral Fat Embolism and Bone Marrow Necrosis in Sickle Cell Disease.","authors":"Sanjay Sharma, Pankaj Shah, Chhatrapal Singh Sahu, Arpit Agrawal, Abhishek Singh, Pranita Sharma, Umesh Kumar Chandra, Sushant Kande, C D Sahu, Alok Sao, Anam Fatima","doi":"10.4103/neurol-india.Neurol-India-D-23-00411","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-23-00411","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"396-397"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delayed Post-Traumatic Cervical Kyphosis Correction: An Institutional Experience.","authors":"Shrijith Murlidharan, Satish Kumar Verma, Sivaraman Kumarasamy, Dattaraj Parmanand Sawarkar, Rajesh Meena, Ramesh Doddamani, Manoj Phalak, Pankaj Kumar Singh, Deepak Agarwal, Deepak Gupta, Gurudutta Satyarthee, Poodipedi Sarat Chandra, Shashank Sharad Kale","doi":"10.4103/neurol-india.Neurol-India-D-24-00417","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-24-00417","url":null,"abstract":"<p><strong>Objective: </strong>Post-traumatic cervical kyphosis is a frequently observed clinical entity in developing countries, secondary to inadequate imaging, socio-economic factors, and associated polytrauma injury. The primary objective is to highlight the clinical presentation and surgical outcomes based on clinical and functional parameters. The secondary objective is to highlight the role of traction and surgical intervention on the quality of life of these neglected patients.</p><p><strong>Methods: </strong>Hospital records of 12 patients operated between 2008 and 2019 were retrospectively reviewed with a minimum follow-up of 24 months. Besides demographic information, radiological findings, and operative details, the outcome measures reported were neurological (ASIA score, MJOA), pain (VAS, NDI score), and operative complications.</p><p><strong>Results: </strong>The cohort included neglected upper cervical injury (5 cases-Hangmen [3], odontoid [2]) and sub-axial injury (7 cases-unilateral [3]/bilateral [2] facet dislocation, teardrop [2] fracture) with a mean delay of 59.5 ± 6.7 days. The mean age of the cohort was 28.5 years with males (10) and females (2) (11-31 years). The major etiology included missed diagnosis (6 [inadequate imaging], associated injury [head injury: 4], and socio-economic factors [2]). Closed reduction by traction was achieved in four patients. Upper cervical injury reduction was achieved by posterior release, joint drilling, and Goel-Harms stabilization, whereas sub-axial injuries were approached by posterior release, reduction facetectomy ± anterior stabilization. Significant kyphotic deformity correction was noted (pre vs. post: 28.8 vs. 6.2, P < 0.05) and consequently, clinical improvement was noted in VAS (pre vs. post: 6.8 vs. 1.0, P < 0.05), NDI score (pre vs. post: 49.5 vs. 23.7, P < 0.05), MJOA (pre vs. post: 9.1 vs. 13.6 P < 0.05) ASIA score (mean grade + 1 improvement in all). Early complications included blood loss (upper cervical vs. sub-axial-512 mL vs. 392 mL [mean]) and late complications included junctional kyphosis (2).</p><p><strong>Conclusions: </strong>A kyphotic deformity correction, if attempted in neglected traumatic cervical injuries, is also associated with significant clinical, functional, and radiographic improved outcomes.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"264-272"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Movement Disorders Associated with Levosulpiride: A Systematic Review of Prevalence, Risk Factors, and Therapeutic Approaches.","authors":"Madhusudan Prasad Singh, Manisha Maheshwari, Sushant Saurabh, Juhi Singh","doi":"10.4103/neurol-india.Neurol-India-D-24-00556","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-24-00556","url":null,"abstract":"<p><strong>Registration number: </strong>PROSPERO: CRD42024553156.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"222-237"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Girl Who Seeks the Light: Diagnosis of Sunflower Syndrome and Review of Management Options.","authors":"Florian Capobianco, Ryan Beal, Praveen Vemuri, Sonal Bhatia","doi":"10.4103/neurol-india.Neurol-India-D-23-00564","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-23-00564","url":null,"abstract":"<p><p>Sunflower syndrome (SS) is a rare self-induced, reflexive epilepsy with photic triggers having highly unique and specific clinical features as patients will characteristically flap their fingers in front of their eyes upon exposure to bright light. Many clinicians are perhaps unaware of this entity, making SS prone to infrequent consideration and misdiagnosis. The purpose of this case is to increase awareness of this diagnosis. We present an adolescent girl in whom this diagnosis was missed/delayed and discuss workup/management in hopes of minimizing holdup in care for individuals affected by this syndrome.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"346-348"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum: At The Cross Roads! Awake Mapping and Resection for Temporoparietal Fiber Intersection Zone Gliomas.","authors":"","doi":"10.4103/neurol-india.neurol-india_6_25","DOIUrl":"https://doi.org/10.4103/neurol-india.neurol-india_6_25","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"412"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myositis Ossificans of the Piriformis Muscle: First Reported Case of Non-Traumatic Sciatic Nerve Injury Requiring Surgical Decompression.","authors":"Quevedo O Esteban, Binaghi Daniela, Lovaglio Ana, Robla C Javier, Socolovsky Mariano","doi":"10.4103/neurol-india.Neurol-India-D-24-00189","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-24-00189","url":null,"abstract":"<p><p>There are only scarce reports of other presentations of non-traumatic myositis ossificans (MO). We describe the first reported case of non-traumatic MO of the piriformis muscle causing irretractability neuropathic pain in the sciatic nerve territory and signs of severe motor and sensory deficit, requiring surgical decompression. The patient presented a complete resolution of pain and partial resolution of neurological deficits. The surgical images and protocol, imaging tests, and post-surgical follow-up were reviewed, using validated scales and rating systems. We concluded that MO is an infrequent condition, but high suspicion is required because early treatment reduces the development of permanent neurological deficits.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 2","pages":"343-345"},"PeriodicalIF":0.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}