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MELAS Presenting as Bilateral Symmetric Occipital and Temporal Cortices Lesions: A Case Report and Literature Review. 表现为双侧对称性枕叶和颞叶皮质病变的 MELAS:病例报告与文献综述
IF 1.1 4区 医学
Neurologist Pub Date : 2025-03-01 DOI: 10.1097/NRL.0000000000000588
Qing Liu, Zhaoxia Wang, Jing Shi, Wenxia Wang, Chao Wen, Yanping Zhu, Xuan Chen, Xiaolian Xing, Yangli Su
{"title":"MELAS Presenting as Bilateral Symmetric Occipital and Temporal Cortices Lesions: A Case Report and Literature Review.","authors":"Qing Liu, Zhaoxia Wang, Jing Shi, Wenxia Wang, Chao Wen, Yanping Zhu, Xuan Chen, Xiaolian Xing, Yangli Su","doi":"10.1097/NRL.0000000000000588","DOIUrl":"10.1097/NRL.0000000000000588","url":null,"abstract":"<p><strong>Introduction: </strong>Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) is one of the most common maternally inherited mitochondrial diseases. The stroke-like episode affecting the cortical cortex is the hallmark of MELAS; however, it rarely presents as simultaneously bilateral symmetric cortices lesions.</p><p><strong>Case report: </strong>We reported a case of MELAS in a 46-year-old female patient with bilateral symmetric occipital and internal temporal cortices involvements on brain magnetic resonance imaging (MRI). A literature review of MELAS patients and a retrospective analysis were performed. She had a family history of diabetes. Although she denied a history of diabetes, elevated blood glucose was noted after admission, and diabetes was diagnosed. Laboratory examination revealed elevated lactate acid and creatine kinase levels in blood. Cranial computed tomography (CT) image demonstrated basal ganglia calcification, as well as subtle decreased attenuation in bilateral symmetric occipital and internal temporal cortices. Brain magnetic resonance imaging (MRI) demonstrated symmetric gyriform hyperintensity in bilateral occipital lobes and internal temporal lobes in both grey and white matter on fluid-attenuated inversion recovery (FLAIR) images with restricted diffusion on diffusion weighted images (DWI). A genetic test revealed a point mutation in the mtDNA(3243A > G) by blood examination. Literature review showed that there were 231 eligible patients with MELAS identified from 212 published papers. Symmetric cortical involvements were seen in 15 (6.5%) patients on brain MRI.</p><p><strong>Conclusions: </strong>MELAS should be considered as a potential diagnosis in the patients with bilateral symmetric stroke-like cortices lesions.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"75-79"},"PeriodicalIF":1.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511728","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}
引用次数: 0
Determining Outcomes in Patients With Large Vessel Occlusion and Mild Stroke Who Did or Did Not Receive Thrombolytics and/or Thrombectomy. 确定接受或未接受溶栓和/或取栓治疗的大血管闭塞和轻度卒中患者的预后。
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000598
Cleo Zarina A Reyes, Ramiro Gabriel Castro-Apolo, Hope Kincaid, Navid Tabibzadeh, Hussam A Yacoub
{"title":"Determining Outcomes in Patients With Large Vessel Occlusion and Mild Stroke Who Did or Did Not Receive Thrombolytics and/or Thrombectomy.","authors":"Cleo Zarina A Reyes, Ramiro Gabriel Castro-Apolo, Hope Kincaid, Navid Tabibzadeh, Hussam A Yacoub","doi":"10.1097/NRL.0000000000000598","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000598","url":null,"abstract":"<p><strong>Objectives: </strong>The utility of thrombolysis and/or thrombectomy in patients with mild stroke and large vessel occlusion (LVO) remains inconclusive. This retrospective study compared short-term and long-term outcomes in patients treated with best medical therapy (BMT group) versus with intravenous thrombolytics and/or endovascular thrombectomy (intervention group).</p><p><strong>Methods: </strong>Patients with acute ischemic stroke (AIS), LVO, and National Institutes of Health Stroke Score (NIHSS) ≤5 were included. Data collected includes demographics; hospital length of stay (LOS); modified Rankin scale (mRS) at admission, discharge, and follow-up; hemorrhagic conversion; and disposition. Bivariate analyses were conducted to compare outcomes between groups.</p><p><strong>Results: </strong>Of the 29 patients, 15 were treated with BMT and 14 underwent intervention. Median hospital LOS was slightly longer in the intervention group (6.5 [IQR=4 to 12] vs. 5 [IQR=3 to 5] d, P=0.070). Everyone in the BMT group had a favorable outcome (mRS 0 to 2) at discharge and follow-up, unlike the intervention group's rate at discharge (100% vs. 71.4%, P=0.042), This gap was closed at follow-up between BMT group (median=33 d, IQR=28 to 48) and intervention group (median=44.5 days, IQR=30 to 48) (100% vs. 85.7%, P=0.224). Hemorrhagic conversion rates were similar between groups. More patients in the BMT group were discharged home (80% vs. 42.9%, P=0.079).</p><p><strong>Conclusions: </strong>Patients with AIS, low NIHSS, and LVO, who received thrombolytics and/or thrombectomy had longer hospital LOS, higher mRS at discharge and follow-up, and were less likely to be discharged home, though these trends were not statistically significant. Our study is limited by a small sample size and these findings should be further explored in larger studies.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":"30 1","pages":"23-27"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933356","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}
引用次数: 0
Safety and Efficacy of Intensive Blood Pressure-Lowering After Successful Endovascular Therapy in AIS: A Meta-Analysis. AIS 血管内治疗成功后强化降压的安全性和有效性:一项 Meta 分析。
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000569
Zhouzan Liao, Li Tian, Ming Wen, Bing Wang, Kai Ding, Qionglin Song
{"title":"Safety and Efficacy of Intensive Blood Pressure-Lowering After Successful Endovascular Therapy in AIS: A Meta-Analysis.","authors":"Zhouzan Liao, Li Tian, Ming Wen, Bing Wang, Kai Ding, Qionglin Song","doi":"10.1097/NRL.0000000000000569","DOIUrl":"10.1097/NRL.0000000000000569","url":null,"abstract":"<p><strong>Objectives: </strong>Higher blood pressure has been proven to be associated with poorer functional outcomes after successful reperfusion by EVT. However, the effect of intensive blood pressure-lowering regimens in these patients remains controversial and ambiguous in clinical practice. We propose further analysis aimed at determining the effect of an intensive blood pressure-lowering regimen after EVT in AIS.</p><p><strong>Methods: </strong>The protocol registered in PROSPERO CRD42023360989. We performed a systematic search that was comprehensively executed in online databases for studies published up to June 2022. Eligibility criteria were established based on the PICOS model. The Cochrane risk of bias algorithm was used to evaluate the risk of bias. The effect models were applied to calculate the pooled ORs and CIs via Review Manager 5.4 software.</p><p><strong>Results: </strong>A total of 1582 citations were identified, 3 randomized clinical trials and 2 retrospective cohort studies were included. Data from 3211 patients were analyzed. We revealed that intensive blood pressure-lowering interventions could significantly reduce symptomatic intraparenchymal hemorrhage compared with standard blood pressure lowering. Nevertheless, favorable functional outcome, poor outcome, all-cause mortality within 3 months and intraparenchymal hemorrhage in 24 hours showed no significant differences. Subgroup analysis revealed the variability of systolic blood pressure within 24 hours after EVT was not associated with odds of poor outcome and intraparenchymal hemorrhage.</p><p><strong>Conclusions: </strong>Based on the current evidence, intensive blood pressure-lowering regimen was superior to standard blood pressure-lowering regimen for a reduced risk of symptomatic intraparenchymal hemorrhage in AIS patients treated with EVT, but there was no statistically significant difference found between the 2 regimens for the other outcomes.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"60-67"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11684474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066396","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}
引用次数: 0
Increased Intracranial Pressure in Myelin-Oligodendrocyte Glycoprotein Antibody-Associated Disease. 髓鞘-少突胶质细胞糖蛋白抗体相关疾病患者颅内压增高。
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000577
Torge Rempe, Aisha Elfasi, Samir Alkabie, Alison Christy, Elsa Rodriguez, Rhaisa Castrodad-Molina, Bryce Buchowicz, Fernando X Cuascut, George Hutton, Revere Kinkel, Jennifer Graves
{"title":"Increased Intracranial Pressure in Myelin-Oligodendrocyte Glycoprotein Antibody-Associated Disease.","authors":"Torge Rempe, Aisha Elfasi, Samir Alkabie, Alison Christy, Elsa Rodriguez, Rhaisa Castrodad-Molina, Bryce Buchowicz, Fernando X Cuascut, George Hutton, Revere Kinkel, Jennifer Graves","doi":"10.1097/NRL.0000000000000577","DOIUrl":"10.1097/NRL.0000000000000577","url":null,"abstract":"<p><strong>Objectives: </strong>To assess characteristics of increased intracranial pressure (ICP) in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).</p><p><strong>Methods: </strong>This is a multicenter retrospective review of 84 MOGAD cases at the University of Florida, Baylor College of Medicine, the University of California San Diego, and Providence Health and Services, Portland, Oregon, to identify cases with a documented increased opening pressure >25 cm H2O. A literature review was conducted to identify previously reported MOGAD cases with an opening pressure >25 cm H2O.</p><p><strong>Results: </strong>Of 28 MOGAD cases with available opening pressures, 6 (21.4%) patients (age: 5 to 36 y; 2/6 females) had documented increased ICP with an opening pressure of 26 to 46 cm H2O and optic nerve head edema on funduscopic examination. The increased ICP occurred in the setting of bilateral optic neuritis in all cases. In 5/6 patients, this was the initial presentation of the disorder. Anti-MOG titers were 1:40 (n = 1), 1:100 (n = 4), and 1:1000 (n = 1). In our literature review, we identified 13 additional MOGAD cases with ICP elevations in the setting of meningo-cortical presentations (n = 10), as well as bilateral optic neuritis (n = 3).</p><p><strong>Conclusions: </strong>Increased ICP may occur in MOGAD and may be more common in patients with optic neuritis or meningoencephalitis.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"17-22"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774245","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}
引用次数: 0
Association of Systemic Immune-Inflammation Index With Stroke and Mortality Rates: Evidence From the NHANES Database. 全身免疫炎症指数与中风和死亡率的关系:来自 NHANES 数据库的证据。
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000561
Lei Yang, Maode Wang
{"title":"Association of Systemic Immune-Inflammation Index With Stroke and Mortality Rates: Evidence From the NHANES Database.","authors":"Lei Yang, Maode Wang","doi":"10.1097/NRL.0000000000000561","DOIUrl":"10.1097/NRL.0000000000000561","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to examine the association of the systemic immune-inflammation index (SII) with stroke and mortality rates using data from the National Health and Nutrition Examination Survey (NHANES).</p><p><strong>Methods: </strong>A cross-sectional study was conducted using the aggregated data from 5 cycles (2009 to 2018) of NHANES. SII was the independent variable, and stroke was the dependent variable. Weighted logistic regression models were employed to analyze their relationship. The nonlinear association between SII and stroke was examined using the restricted cubic spline (RCS) method in subgroups stratified by smoking status, hypertension, and dietary inflammatory index. Weighted Kaplan-Meier curves and Cox regression analysis were used to investigate the association of SII with all-cause mortality and cardiovascular disease (CVD) mortality.</p><p><strong>Results: </strong>A total of 22,107 samples were included in this study. Weighted logistic regression analysis showed a significant correlation between SII and stroke (OR: 1.53, 95% CI: 1.22-1.92, P <0.001). The stratified analysis revealed that interactions of smoking status and hypertension with SII, respectively, had significant impacts on stroke risk. A remarkable positive link between SII and stroke risk (OR>1, P <0.05) was observed in the crude model (unadjusted for confounding factors), model I (adjusted for demographic characteristics), and model II (adjusted for all confounding factors). RCS analysis displayed a remarkable nonlinear positive correlation between SII and stroke risk only in the \"now smoking\" population ( P -nonlinear<0.05) after adjusting for all confounding factors. In the overall sample population, Kaplan-Meier curves indicated that individuals in the highest quartile of SII had the highest risk of all-cause mortality and CVD mortality (log-rank test P <0.05). Samples with proinflammatory dietary habits had considerably higher risks of all-cause mortality and CVD mortality compared with those with anti-inflammatory dietary habits (log-rank test P <0.05). Multivariable-adjusted Cox regression models showed significantly increased all-cause mortality and CVD mortality rates in the highest quartile of SII compared with the lowest quartile.</p><p><strong>Conclusions: </strong>SII levels were considerably positively linked to stroke risk, particularly in the \"now smoking\" population. Moreover, elevated SII levels increased the risk of all-cause mortality and CVD mortality in the overall population. On the basis of these findings, we recommend incorporating smoking cessation measures into stroke risk reduction strategies.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"1-10"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974228","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}
引用次数: 0
Rocky Mountain Spotted Fever Encephalitis and "Starry Sky" Pattern on MRI: A Case Report. 落基山斑疹热脑炎和核磁共振成像上的 "星空 "图案:病例报告
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000586
John P Mikhaiel, Melvin Parasram, Jaehan Park, Stefanie Cappucci, Declan McGuone, Guido J Falcone, Kevin N Sheth, Emily J Gilmore
{"title":"Rocky Mountain Spotted Fever Encephalitis and \"Starry Sky\" Pattern on MRI: A Case Report.","authors":"John P Mikhaiel, Melvin Parasram, Jaehan Park, Stefanie Cappucci, Declan McGuone, Guido J Falcone, Kevin N Sheth, Emily J Gilmore","doi":"10.1097/NRL.0000000000000586","DOIUrl":"10.1097/NRL.0000000000000586","url":null,"abstract":"<p><strong>Introduction: </strong>Rocky Mountain Spotted Fever (RMSF) is a tick-borne disease caused by Rickettsia rickettsii ( R. rickettsii ). RMSF presents after a tick bite with fever, rash, and headache but can also cause more serious neurological manifestations. We report a case of RMSF encephalitis presenting with altered sensorium and rapid progression to coma, fever, and petechial rash, and an magnetic resonance imaging (MRI) brain notable for a \"starry sky\" pattern.</p><p><strong>Case report: </strong>A 61-year-old woman presented with confusion and fever and was diagnosed with a urinary tract infection. Two days later, she became comatose. MRI brain revealed lacunar infarcts in the right centrum semiovale and splenium of the corpus callosum. Lumbar puncture was notable for neutrophilic pleocytosis and elevated protein with negative bacterial and viral cultures. Empiric meningitis therapy was initiated, and she was transferred to our institution. On transfer, she was febrile, comatose, and had a diffuse petechial rash. Repeat MRI brain demonstrated diffuse, innumerable punctate foci of diffusion restriction with susceptibility-weighted signal attenuation throughout cerebral hemispheres in a \"starry sky\" pattern. Skin biopsy revealed perivascular lymphocytic infiltrates. Serologic RSMF antibody titers were obtained, and doxycycline was initiated for presumed RMSF encephalitis. The family opted to pursue palliative measures, given no clinical improvement. RSMF titers and postmortem PCR from brain tissue were positive for R. rickettsii.</p><p><strong>Conclusions: </strong>This case report highlights the clinical presentation of RMSF encephalitis. RMSF encephalitis should be suspected in a patient presenting with encephalopathy, fever, petechial rash, and MRI brain findings of diffuse punctate foci of diffusion restriction and susceptibility-weighted signal attenuation in a \"starry-sky\" pattern.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"34-38"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394752","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}
引用次数: 0
A Mild Phenotype of Overlapping Syndrome With Myelin-Oligodendrocyte Glycoprotein and Glial Fibrillary Acidic Protein Immunoglobulin G: Mimicking Viral Meningitis in a Patient. 髓鞘-ligodendrocyte糖蛋白与胶质纤维酸性蛋白免疫球蛋白G重叠综合征的轻度表型:模仿一名患者的病毒性脑膜炎》(Amild Phenotype of Overlapping Syndrome with Myelin-Oligodendrocyte Glycoprotein and Glial Fibrillary Acidic Protein Immunoglobulin G: Mimicking Viral Meningitis in a Patient.
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000547
Danmei Pan, Jina Gu, Chengjun Zeng, Lin Chen
{"title":"A Mild Phenotype of Overlapping Syndrome With Myelin-Oligodendrocyte Glycoprotein and Glial Fibrillary Acidic Protein Immunoglobulin G: Mimicking Viral Meningitis in a Patient.","authors":"Danmei Pan, Jina Gu, Chengjun Zeng, Lin Chen","doi":"10.1097/NRL.0000000000000547","DOIUrl":"10.1097/NRL.0000000000000547","url":null,"abstract":"<p><strong>Introduction: </strong>Glial fibrillary acidic protein (GFAP) astrocytopathy, an autoimmune central nervous system disorder characterized by the development of immunoglobulin G reactive with GFAP, has received growing attention in recent years. It is documented that GFAP-immunoglobulin G and other autoantibodies can be both detected in some patients. However, the coexistence of anti-myelin-oligodendrocyte glycoprotein (MOG) and GFAP antibodies is rarely reported.</p><p><strong>Case: </strong>A 45-year-old man presented with headache, fever, backache, dysuria, tremble of hands, numbness of lower limbs, without diplopia, decreased vision, or other manifestations of optic neuritis. He was initially diagnosed with viral meningitis. After antiviral therapy, his headache, fever, and dysuria were improved, but the tremble of his upper limbs and numbness of his lower limbs still existed. A lumbar puncture was further performed and found both anti-GFAP and anti-MOG antibodies in the cerebrospinal fluid. No evidence of other immune disorders or infectious diseases was revealed. Meanwhile, a magnetic resonance scan showed enhancement of spinal pia mater in cervical, thoracic, and lumbar segments. He was then treated with immunoglobulin (intravenous immunoglobulin) therapy (25 g for 5 d), and steroid pulse therapy (methylprednisolone, 1 g for 5 d), followed by a gradual tapering of oral prednisolone.</p><p><strong>Conclusion: </strong>We reported a case of overlapping anti-GFAP and anti-MOG antibody-associated syndrome. This case enriches our understanding of the clinical manifestations of overlapping syndrome and expands the spectrum of this disorder.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"52-54"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832643","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}
引用次数: 0
Advancements in Imaging for the Diagnosis of Wake-up Stroke. 唤醒式中风诊断成像技术的进展。
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000585
Yang Li, Chun-Hui Ma
{"title":"Advancements in Imaging for the Diagnosis of Wake-up Stroke.","authors":"Yang Li, Chun-Hui Ma","doi":"10.1097/NRL.0000000000000585","DOIUrl":"10.1097/NRL.0000000000000585","url":null,"abstract":"<p><strong>Background: </strong>The concept of wake-up stroke (WUS) as a distinct subtype of acute ischaemic stroke, characterized by an uncertain onset time, traditionally resulted in the exclusion of patients from intravenous thrombolysis treatment.</p><p><strong>Review summary: </strong>Advancements in neuroimaging have prompted a shift in the approach to intravenous thrombolysis treatment, moving away from a strict focus on the onset time window toward consideration of the tissue time window. This paradigm shift has expanded the opportunity for a larger cohort of patients with WUS to receive timely and effective treatment, ultimately leading to improved prognosis.</p><p><strong>Conclusions: </strong>This study reviews the WUS pathogenesis and the progress of various imaging diagnostic techniques to clarify the WUS onset time and select the optimal treatment plan.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"55-59"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394750","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}
引用次数: 0
C9orf72 Gene-Associated Frontotemporal Dementia Mimicking Autoimmune Pathology. 模仿自身免疫病理的 C9orf72 基因相关性额颞叶痴呆症
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000587
Yoji Hoshina, Clark Moser, Melissa A Wright, Elizabeth Sunderman, Charles T Livsey, Emily Spoth, Stacey L Clardy, Christine J Cliatt Brown
{"title":"C9orf72 Gene-Associated Frontotemporal Dementia Mimicking Autoimmune Pathology.","authors":"Yoji Hoshina, Clark Moser, Melissa A Wright, Elizabeth Sunderman, Charles T Livsey, Emily Spoth, Stacey L Clardy, Christine J Cliatt Brown","doi":"10.1097/NRL.0000000000000587","DOIUrl":"10.1097/NRL.0000000000000587","url":null,"abstract":"<p><strong>Introduction: </strong>The C9orf72 mutation can manifest in diverse clinical ways, including rapid cognitive decline, parkinsonism, or late-life neuropsychiatric symptoms, sometimes mimicking autoimmune encephalitis.</p><p><strong>Case report: </strong>A 64-year-old female presented to the autoimmune neurology clinic with rapidly progressive dementia (RPD) associated with episodes of headache, confusion, auditory hallucinations, and abnormal electroencephalogram. She was treated empirically at an outside hospital for possible autoimmune encephalitis with intravenous methylprednisolone, but there was no improvement, and rapid cognitive decline continued. Family history was notable for RPD with akinetic mutism in her sister, sudden severe depression followed by parkinsonism with progressive dementia in her father in his 60s, and late-life gradually progressive dementia in her mother. Additional testing revealed a low titer positive contactin-associated protein-like 2 (CASPR2) immunoglobulin G (IgG) in the serum and elevated CSF 14-3-3 protein. CSF CASPR2 IgG and real-time quaking-induced conversion for Creutzfeldt-Jakob disease were negative. Brain MRI showed normal parenchymal volume. Genetic testing was conducted, which identified a heterozygous pathogenic hexanucleotide tandem repeat expansion in the C9orf72 gene.</p><p><strong>Conclusion: </strong>This case underscores the phenotypic variability of C9orf72 mutation and the importance of a detailed family history exploring young or atypical deaths and neuropsychiatric symptoms or behavioral changes. Genetic etiologies are crucial to consider in those with a family history concerning autosomal dominant inheritance patterns of early-onset dementia, parkinsonism, or late-onset psychiatric disease. Emphasis is placed on considering alternative etiologies early, particularly when there is no response to first-line immunomodulation for suspected autoimmune dementia.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"42-44"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394751","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}
引用次数: 0
Cerebral Venous Sinus Thrombosis as a Unique Initial Presentation of Thyroid Storm. 脑静脉窦血栓形成是甲状腺风暴的独特初始表现。
IF 1.1 4区 医学
Neurologist Pub Date : 2025-01-01 DOI: 10.1097/NRL.0000000000000595
Hussein Algahtani, Bader Shirah, Mohamed Najm Aldeen Alameen, Abdulrahman Bin Saeed
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