Annals of Indian Academy of Neurology最新文献

{"title":"HOMER1 Polymorphism and Parkinson’s Disease–Psychosis: Is there an Association?","authors":"A. Lenka, P. Sundaravadivel, Rita Christopher, Shyam S. Arumugham, S. Hegde, Ravi Yadav, P. Pal","doi":"10.4103/aian.aian_1038_23","DOIUrl":"https://doi.org/10.4103/aian.aian_1038_23","url":null,"abstract":"\u0000 \u0000 \u0000 Homer1, a postsynaptic protein coded by the HOMER1 gene, presumably has a role in homeostatic plasticity that dampens neuronal responsiveness when the input activity is too high. HOMER1 polymorphism has been studied in major psychiatric disorders such as schizophrenia. The objective of this study is to investigate if polymorphisms of the HOMER1 gene are associated with psychosis in Parkinson’s disease (PD-P).\u0000 \u0000 \u0000 \u0000 One hundred patients with Parkinson’s disease (PD) and 100 healthy controls were enrolled consecutively in a PD-P biomarker study at the National Institute of Mental Health and Neurosciences, Bangalore, India. Of the 100 PD patients, 50 had psychosis (PD-P) and 50 did not have psychosis (PD-NP). Two single-nucleotide polymorphisms of HOMER1 (rs4704559 and rs4704560) were analyzed from the DNA isolated from peripheral blood. The allele and genotype frequencies in the PD-P and PD-NP groups were compared.\u0000 \u0000 \u0000 \u0000 Analysis of HOMER1 rs4704560 revealed a significant difference in both genotype and allele levels between PD-P and PD-NP groups. There was an overrepresentation of T-allele (42% vs. 16%; P < 0.001) and TT genotype (24% vs. 6%; P < 0.001) in the PD-P group compared to PD-NP group. There was no significant difference between PD-P and PD-NP groups when various genotypes and allele frequencies related to HOMER1 rs4704559 were compared.\u0000 \u0000 \u0000 \u0000 PD-P is probably associated with overrepresentation of T-allele of HOMER1 rs4704560, and larger studies are warranted to confirm our results.\u0000","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140690842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sleep Disorders Can Only be a Risk Factor for Breathing Disorders in Amyotrophic Lateral Sclerosis if All Other Risk Factors are Excluded","authors":"J. Finsterer","doi":"10.4103/aian.aian_38_24","DOIUrl":"https://doi.org/10.4103/aian.aian_38_24","url":null,"abstract":"","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140709538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Revisiting Friedreich’s Ataxia: Phenotypic and Imaging Characteristics","authors":"RohanR Mahale, M. Purushottam, Raviprakash Singh, R. Yelamanchi, N. Kamble, V. Holla, P. Pal, Sanjeev Jain, Ravi Yadav","doi":"10.4103/aian.aian_1001_23","DOIUrl":"https://doi.org/10.4103/aian.aian_1001_23","url":null,"abstract":"\u0000 \u0000 \u0000 Friedreich’s ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease. We aimed to study the clinical, electrophysiologic, and radiologic profiles in a large Indian cohort of genetically proven FRDA patients.\u0000 \u0000 \u0000 \u0000 A retrospective cross-sectional, descriptive analysis of genetically proven FRDA patients was performed. A detailed review of all the hospital case records was done to analyze the clinical, radiologic, and electrophysiologic details.\u0000 \u0000 \u0000 \u0000 A total of 100 FRDA patients were selected for the analysis. Eighty-six patients had an age at onset between 5 and 25 years. Eight patients (8%) were classified as late-onset FRDA and six patients (6%) as early-onset FRDA. The median age at presentation was 19 years. The median age at onset was 14 years, and the median duration of illness was 4 years. All patients had gait ataxia as the initial symptom. Gait ataxia, loss of proprioception, and areflexia were seen in all patients. Dysarthria, nystagmus, amyotrophy, spasticity, extensor plantars, pes cavus, and scoliosis occurred in one-third of patients. Cardiomyopathy (18%) and diabetes (5%) were less common. Sensory polyneuropathy (87.5%) was the most common nerve conduction abnormality. Cortical somatosensory evoked responses were absent in all 43 tested patients (100%). Brainstem auditory evoked response test was done in 24 patients and it showed absent reactions in six patients (25%). Visual evoked potential was tested in 24 patients and it showed absent P100 responses in five patients (21%). Cerebellar and cord atrophy was seen on magnetic resonance imaging in 50% of patients.\u0000 \u0000 \u0000 \u0000 Most FRDA patients (86%) had an age at onset of less than 25 years, with typical symptoms of gait ataxia, areflexia, and loss of proprioception found in all patients. Dysarthria, nystagmus, amyotrophy, spasticity, extensor plantars, pes cavus, scoliosis, cardiomyopathy, and diabetes were not seen in all patients. Cerebellar atrophy can occur in FRDA patients. Knowledge regarding the clinical, radiologic, and electrophysiologic profile of FRDA will aid in proper phenotypic characterization.\u0000","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140712106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endovascular Treatment for Cerebral Venous Sinus Thrombosis: Comparison among Different Endovascular Procedures","authors":"S. A. Rangarajan, Dileep Ramachandran, Tanaya Mishra, Vikneshwaran Gunaseelan, Gopal K. Dash, Vivek J. Philip, Radhika Manohar, Kuldeep Shetty, Pavin Thomas, V. Huded","doi":"10.4103/aian.aian_965_23","DOIUrl":"https://doi.org/10.4103/aian.aian_965_23","url":null,"abstract":"\u0000 \u0000 \u0000 Cerebral venous sinus thrombosis (CVST) is a rare, treatable cause of stroke. Even though CVST has an established medical treatment, 15% of patients remain refractory to treatment. These patients may be candidates for endovascular treatment (EVT), yet the selection of patients remains a challenge. The study aims to understand the profile and outcome of patients treated with EVT and the type of procedure associated with good outcomes.\u0000 \u0000 \u0000 \u0000 This is a single-center, retrospective analysis of CVST patients who underwent EVT from 2009 till 2022. Patients who received only medical management were excluded. Modified Rankin Scale (mRS) ≤2 at 3 months was taken as the primary outcome. Secondary outcomes assessed were hospital stay, death, recurrence, mRS ≤ 2 at discharge, and angiographic recanalization.\u0000 \u0000 \u0000 \u0000 Fifty-two patients were included. Twenty-eight (53.8%) were males; the mean age was 33.3 ± 12.3 years. Headache (n = 44, 84.6%) predominated among the symptoms. The common risk factors were anemia (n = 13, 25.5%) and hyperhomocysteinemia (n = 13, 25.5%). Worsening of sensorium (n = 21, 40.3%) and non-improvement of symptoms (n = 15, 28.8%) were the common indications for the procedure. Twenty-five (48.1%) people underwent in situ thrombolysis (IST). Death occurred in eight (15.3%) patients. Thirty-six (73.5%; 36/49) patients had a good outcome at 3 months. IST had a significantly better outcome (mRS ≤ 2, n = 20, 80%) compared to other procedures (P = 0.04). Hospital stay was lesser in the IST subgroup, but without statistical significance. Midline shift >5 mm (odds ratio [OR] 6.8 [1.5–30.9], P = 0.01) and Glasgow Coma Scale <9 before the procedure (OR 27.2 [3.1–236.4], P = 0.002) predicted bad outcomes at 3 months. Female gender (OR 4.5 [1.07–8.8], P = 0.03), presence of altered sensorium (OR 10.2 [1.2–87.5], P = 0.01), encephalopathic syndrome (P = 0.02), presence of parenchymal bleed (OR 3.7 [0.9–4.5], P = 0.04), and midline shift (OR 4.8 [1.1–20.2], P = 0.03) were associated with poor outcome at discharge.\u0000 \u0000 \u0000 \u0000 EVT yielded good outcomes in carefully selected, medically refractory patients of CVST. IST performed well compared to other procedures.\u0000","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140710523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Case of SCN1A Mutation Presenting as Hyperkinetic Movement Disorder","authors":"S. Mohinish, L. Cornelius, Neeraj Elango, Jered Livingston","doi":"10.4103/aian.aian_1080_23","DOIUrl":"https://doi.org/10.4103/aian.aian_1080_23","url":null,"abstract":"\u0000 \u0000 SCN1A mutation is most often associated with Dravet syndrome, which is characterized by severe encephalopathy. One of the other presentations of SCN1A mutation is developmental and epileptic encephalopathy-6B (DEE6B). It is a severe neurodevelopmental disorder characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder. Here we report a rare case of novel SCN1A mutation presenting as hyperkinetic movement disorder in the form of multifocal dystonia and parakinesia in a 12-year-old boy, which aggravated with the use of sodium channel blockers.","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140710988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outpatient Neuropalliative Care Services in a Tertiary Hospital Setting","authors":"Priya Treesa Thomas, Gargi S. Kumar, Priya Baby, S. Vengalil, P. Srijithesh, B. K. Yamini, M. Netravathi, Ravi Yadav, R. D. Pandian, Anupam Gupta, S. Alladi, A. Nalini","doi":"10.4103/aian.aian_901_23","DOIUrl":"https://doi.org/10.4103/aian.aian_901_23","url":null,"abstract":"","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140734170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding Eyelid Closure Apraxia in Right Frontoparietal Stroke","authors":"Joseph Colasimone, Zacharie Gagné, Christine Arbour, R. Singh, A. Srivastava, M. Bambale, A. Deshmukh","doi":"10.4103/aian.aian_1069_23","DOIUrl":"https://doi.org/10.4103/aian.aian_1069_23","url":null,"abstract":"","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140737169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual and a Rare Cause of Toxic Optic Neuropathy – Closantel Toxicity","authors":"R. Shaik, Sireesha Yareeda, Gowrishankar Barathidasan, Varun Anand","doi":"10.4103/aian.aian_1022_23","DOIUrl":"https://doi.org/10.4103/aian.aian_1022_23","url":null,"abstract":"","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140736692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Necrotizing Encephalopathy Associated with SARS-CoV-2 Infection in Children","authors":"Hui Zhu, Shuyao Zhu, Qiyan Wang, Lijuan Wang, Qiong Jiang, Yuhang Hu, Yu Huang, Lan Zeng, Zemin Luo","doi":"10.4103/aian.aian_912_23","DOIUrl":"https://doi.org/10.4103/aian.aian_912_23","url":null,"abstract":"","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140736097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Excellent Response to Repeated Greater Occipital Nerve Blocks in a Patient with Short-Lasting Unilateral Neuralgiform Headache with Conjunctival Tearing","authors":"Ashwin K. Panda, Sourav Hazra, Deepti Grover","doi":"10.4103/aian.aian_1104_23","DOIUrl":"https://doi.org/10.4103/aian.aian_1104_23","url":null,"abstract":"","PeriodicalId":504920,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140737524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}