Annals of Indian Academy of Neurology最新文献

{"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":"https://doi.org/10.4103/aian.aian_309_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary Spastic Paraplegia Type 7 With Early-Onset Parkinsonism Responsive to Subthalamic Deep Brain Stimulation.","authors":"Sayooja Sachithanandan, Krishnakumar Pisharody, Asish Vijayaraghavan, Lokesh V Dasarathan, Divya Kalikavil Puthenveedu, Syam Krishnan","doi":"10.4103/aian.aian_458_25","DOIUrl":"https://doi.org/10.4103/aian.aian_458_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144648389","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":"Mastoid Signal Change and Acute Cerebral Venous Sinus Thrombosis: Unlocking the Puzzle.","authors":"Ayush Agarwal, Venugopalan Y Vishnu, Meena Chandu, Divyani Garg, Manjari Agarwal, Ranjot Kaur, Maneesh Shakywar, Rohit Bhatia, Achal K Srivastava, Ashish Upadhyay, Ajay Garg, Mv Padma Srivastava","doi":"10.4103/aian.aian_99_25","DOIUrl":"10.4103/aian.aian_99_25","url":null,"abstract":"<p><strong>Abstract: </strong>Mastoid signal changes on magnetic resonance imaging in cerebral venous sinus thrombosis (CVT) patients are often misinterpreted as septic CVT. Studies have revealed mastoid signal changes in CVT patients. We conducted this study to investigate this relationship. Single-center, retrospective, observational study. Patients aged ≥18 years with venography-proven CVT were enrolled, excluding those with sepsis-induced CVT. Mastoid changes and clot burden score (CBS) were calculated. We screened and enrolled 128 and 124 CVT patients, respectively. Seventy per cent of patients had mastoid signal changes. The median mastoid score and CBS were 1 and 3, respectively. CBS was higher in CVT patients with mastoid changes. A higher CBS was associated with a higher mastoid score ( P = 0.003). Logistic regression analysis revealed an odds ratio of 0.67 (95% confidence interval: 0.52-0.87) for this association. The presence of radiological mastoid involvement is not sine qua non of associated middle ear infections and should raise the possibility of CVT.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574710","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":"Cluster of Fulminant Guillain-Barre Syndrome in Maharashtra from June to October 2023: Multicentric Survey.","authors":"Amira Patel, Megha Dhamne, Rahul Kulkarni, Pawan Ojha, Dhruv Batra, Jayanti Mani, Tushar Raut, Vyankatesh Bolegave, Gautam Kale, Gautam Tripathi, Anand Soni, Lomesh Birud, Yatin Sagvekar, Yogesh Patidar, Yogesh Godge, Manoj Hunnur, Sandeep Borse, Tanu Singhal, Anagha Choudhari, Annu Aggarwal","doi":"10.4103/aian.aian_1022_24","DOIUrl":"10.4103/aian.aian_1022_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"614-617"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144232957","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":"Correlation Between the Motor Outcomes and SMN2 and NAIP Gene Copy Numbers Among North Indian Children with Spinal Muscular Atrophy.","authors":"Shubhangi Singh, Renu Suthar, Priyanka Srivastava, Abhishek Pandey, Anupriya Kaur, Jitendra K Sahu","doi":"10.4103/aian.aian_974_24","DOIUrl":"10.4103/aian.aian_974_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>The clinical spectrum of spinal muscular atrophy (SMA) is heterogenous and depends on several factors. This study aimed to investigate the correlation between the motor outcomes and genetic modifiers of SMN1 gene.</p><p><strong>Methods: </strong>In this cross-sectional study, children with genetically confirmed diagnosis of SMA were enrolled. Motor outcomes were assessed using standard age-appropriate scale (Children's Hospital of Philadelphia infant test of neuromuscular disorders [CHOP], Revised Hammersmith Scale [RHS], and Medical Research Council [MRC] sum score). The copy numbers of SMN1, SMN2, and NAIP genes were estimated using multiplex ligation probe analysis.</p><p><strong>Results: </strong>Fifty children with SMA (26 males), with a mean age of 36 (17-84) months, were enrolled. Late-onset subtypes of SMA (types 2 and 3) constituted 78% of cases. The mean ± standard deviation (SD) CHOP score of children with type 1 SMA having one, two, and three copies of SMN2 gene exon 7 was 24 ± 5, 24 ± 8, and 35 ± 13, respectively. The mean ± SD RHS score of children with type 2 and 3 SMA was 32 ± 16, 29.4 ± 17, 37.8 ± 16, 56 ± 4 among children having two, three, four, and five copies of SMN2 gene exon 7. The RHS score and MRC sum score correlated significantly with SMN2 gene exon 7 copy numbers (p < 0.05). Homozygous deletion of NAIP gene was significantly higher in children with type 1 SMA compared to those with type 2 and 3 SMA (p value- 0.006).</p><p><strong>Conclusions: </strong>The SMN2 gene exon 7 copy numbers correlate significantly with motor outcomes in children with SMA. NAIP gene deletion negatively influences the disease severity. NAIP gene can serve as a biomarker for disease prognostication.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"28 4","pages":"579-584"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393850/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144871085","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":"Hyperammonemic Encephalopathy due to Underlying Ornithine Transcarbamylase Deficiency.","authors":"Boby V Maramattom, Priniya Saul","doi":"10.4103/aian.aian_1069_24","DOIUrl":"10.4103/aian.aian_1069_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"608-611"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143969289","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":"Patatin-Like Phospholipase Domain-Containing Protein 8 Mutation Associated with Gonadal Dysgenesis, Cerebellar Ataxia, and Peripheral Neuropathy in an Indian Family.","authors":"Alvee Saluja, Shahbaz Anees, Lekharaj H Ghotekar, Vikas Yadav, Anul Haque, Mehar C Sharma","doi":"10.4103/aian.aian_15_25","DOIUrl":"10.4103/aian.aian_15_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"625-628"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526212","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":"Radiological and Electrophysiological Correlates of Disease Progression in Patients with Hirayama Disease.","authors":"Somya Singhal, Sanyam K Mahajan, Sanjeev Jha, Vivek Singh, Vinita E Mani, Vimal K Paliwal","doi":"10.4103/aian.aian_8_25","DOIUrl":"10.4103/aian.aian_8_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>To correlate the distribution of neurogenic motor unit potentials in the upper limb (s) and the extent of anterior displacement of the cervical duramater on neck flexion with the progression of weakness/atrophy in Hirayama disease.</p><p><strong>Methods: </strong>Consecutive patients with distal Hirayama disease were classified as distal group (neurogenic potential in C7-T1 innervated muscles), proximal (neurogenic potentials C5-T1 muscles), and contralateral group (neurogenic potentials in contralateral hand/arm). Based on the extent of anterior dural displacement on neck-flexed cervical magnetic resonance imaging, patients were classified as anterior dural displacement across the C5 vertebra and anterior dural displacement at C5 vertebra and below. The disease progression at 1 year was correlated with the distribution of neurogenic potentials and the extent of anterior dural displacement.</p><p><strong>Results: </strong>Twenty-eight patients (mean age, 17.41 ± 2.30 years; all males) were included. Eleven (39.2%), 17 (60.7%), and 22 (78%) patients were in proximal, distal, and contralateral groups, respectively. Twenty-three (82%) had anterior dural displacement across the C5 vertebra, whereas 5 (17%) had anterior dural displacement at C5 vertebra and below. Ipsilateral disease progression was seen in 15 (53%) and contralateral progression in 25 (89%) (new onset in 7 [25%]). No patient showed progression in shoulder/arm muscles. The proximal group had a significantly larger extent of anterior dural displacement. However, there was no correlation of disease progression with either the distribution of neurogenic motor unit potentials or the extent of cervical dural displacement on neck flexion.</p><p><strong>Conclusions: </strong>The extent of anterior dural displacement on neck flexion and neurogenic motor unit potentials in proximal, distal, or contralateral upper limb did not correlate with progression of muscle weakness/atrophy in Hirayama disease at 1 year.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"527-534"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144793309","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":"Utility of Dorsal Sural Nerve for Clinical Correlation and Detection of Early Diabetic Neuropathy.","authors":"Partisha Gupta, Ajoy Kumar Sodani, Rahul Jain, Ashish Gaur","doi":"10.4103/aian.aian_1121_24","DOIUrl":"10.4103/aian.aian_1121_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Monofilament and tuning fork are commonly applied in clinical testing for distal sensory peripheral neuropathy (DSP). However, a dependable diagnosis of DSP requires nerve conduction studies (NCS). In the present study, we emphasize on the utility of dorsal sural sensory nerve action potential (dsSNAP) abnormality over sural sensory nerve action potential (SNAP) abnormality in detecting early DSP. Furthermore, we study the correlation between the clinical findings and sural SNAP and dsSNAP abnormalities.</p><p><strong>Methods: </strong>The study included 101 persons with type 2 diabetes mellitus (T2DM) (PWD; 202 lower extremities [LEs]) aged 18-70 years, with the duration of T2DM being ≥6 months. Normative data was generated from controls (200 LEs). Clinical and electrophysiological findings of the study group were analyzed and discussed in comparison with the normative data. Furthermore, receiver operating characteristic (ROC) curve analysis determined the optimal cut-off for different sensory modalities, and Spearman's correlation tests were applied to analyze the correlation between NCS and clinical parameters.</p><p><strong>Results: </strong>dsSNAP was abnormal in 39.1%, while sural SNAP was abnormal in 9.8% of asymptomatic PWD. Early neuropathy was detectable with subjective losses of 10% in temperature and pain sensations, 20% in touch sensation, and vibration duration <12 sec. Conventionally, the lower limit of normal of SNAP is considered as the cut-off for abnormality in the Electrophysiology (EP) lab. On ROC analysis, we found different optimal cut-offs for different sensory modalities.</p><p><strong>Conclusions: </strong>Incorporating dorsal sural nerve into routine NCS enhances the detection of early DSP. Clinical sensory abnormalities, especially temperature and vibration sensation, showed the highest sensitivity and specificity, respectively, in relation to NCS abnormalities. Relying solely on standard institute-based reference SNAP amplitudes may potentially overlook early DSP.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"560-567"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574721","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":"Efficacy of Subcutaneous and Intravenous Immunoglobulin in Patients with Multifocal Motor Neuropathy: A Systematic Review and Meta-analysis.","authors":"Indar Kumar Sharawat, Pragnya Panda, Lesa Dawman, Ananthanarayanan Kasinathan, Prateek Kumar Panda","doi":"10.4103/aian.aian_815_24","DOIUrl":"10.4103/aian.aian_815_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Multifocal motor neuropathy (MMN) is an uncommon chronic autoimmune disorder in adults. Several randomized and non-randomized studies with small sample sizes have shown promising results with subcutaneous immunoglobulin (SCIg) in MMN patients who have a stable disease course with intravenous immunoglobulin (IVIg). This systematic review aimed to compare the efficacy of SCIg and IVIg treatment in MMN patients in terms of changes in muscle power, grip strength, motor function, disability, quality of life, as well as adverse effects.</p><p><strong>Methods: </strong>Random- or fixed-effect model was used, as appropriate, to determine the pooled weighted estimates for outcome variables, depending on the degree of heterogeneity. A total of 11 publications from nine studies (110 patients, mean age 54.3 ± 3.4 years, 57% males, duration of illness 9.7 ± 2.4 years) were included in the review.</p><p><strong>Results: </strong>Changes in the Medical Research Council sum score (MRC-SS), grip strength, dexterity, and disability due to neuropathy following IVIg and SCIg administration were comparable ( P = 0.30, I ² = 9%; P = 0.51, I ² = 0%; P = 0.45, I ² = 0%; and P = 0.57, I ² = 0%, respectively). Changes in health-related quality of life were numerically better with SCIg, although the difference did not reach statistical significance ( P = 0.17, I ² = 72%,). Over the long term, there was a trend toward fewer disease fluctuations compared to IVIg ( P = 0.43), and the efficacy comparable to IVIg was maintained in terms of muscle strength, disability, and quality of life parameters ( P = 0.83, 0.85, and 0.59, respectively). The incidence of moderate to severe systemic adverse effects was significantly lower with SCIg infusion compared to previous years when patients received IVIg ( P = 0.03).</p><p><strong>Conclusions: </strong>SCIg can be considered an acceptable alternative to IVIg in patients with MMN, with a better safety profile.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"485-494"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966718","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}