Neurologist最新文献

{"title":"Cerebral Venous Sinus Thrombosis as a Unique Initial Presentation of Thyroid Storm.","authors":"Hussein Algahtani, Bader Shirah, Mohamed Najm Aldeen Alameen, Abdulrahman Bin Saeed","doi":"10.1097/NRL.0000000000000595","DOIUrl":"10.1097/NRL.0000000000000595","url":null,"abstract":"<p><strong>Introduction: </strong>Thyrotoxicosis is associated with a hypercoagulable state, increasing the risk of thrombotic events like CVST. Literature review reveals thyroid hormone's role in promoting prothrombotic abnormalities, impacting coagulation factors and platelet function.</p><p><strong>Case report: </strong>This study explores the rare occurrence of thyroid storm complicated by deep cerebral venous sinus thrombosis (CVST) in a young male with no prior history of thyroid disease. Our case emphasizes the importance of considering thyroid disease, including thyroid storm, in patients who present with acute neurological symptoms and signs of hyperthyroidism.</p><p><strong>Conclusions: </strong>Multidisciplinary management is crucial for optimizing outcomes in both thyroid storm and neurological complications, with collaborative efforts from emergency physicians, endocrinologists, neurologists, and critical care specialists. This study underscores the need for increased awareness and timely intervention in complex presentations of thyroid dysfunction, urging further investigation into underlying mechanisms and therapeutic strategies to enhance patient care and prognosis in such critical scenarios.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":"30 1","pages":"39-41"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933388","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":"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}

{"title":"Risk Factors and a Prediction Model for Hemorrhagic Transformation in Acute Ischemic Stroke With Atrial Fibrillation.","authors":"Wang Fu, Jun Zhang, Qianqian Bi, Yanqin Lu, Lili Liu, Xiaoyu Zhou, Jue Wang, Feng Wang","doi":"10.1097/NRL.0000000000000602","DOIUrl":"10.1097/NRL.0000000000000602","url":null,"abstract":"<p><strong>Objectives: </strong>To identify the risk factors of hemorrhagic transformation (HT) and to establish a prediction model for HT in patients with acute ischemic stroke (AIS) and atrial fibrillation (AF).</p><p><strong>Methods: </strong>From January 2015 to December 2018, patients with AIS and AF were enrolled. Demographics, lesion features, and blood test results were collected. Univariate and multivariate logistic regression analyses were used to identify the independent risk factors of HT. The receiver operating curve (ROC) curve was utilized to determine the cutoff values and the efficiency of the variables. A predictive model was subsequently developed based on the identified independent risk factors.</p><p><strong>Results: </strong>A total of 259 patients were included. Age [odds ratio (OR): 1.094; 95% CI: 1.048-1.142; P <0.001], LDL-C (OR: 0.633; 95% CI: 0.407-0.983; P =0.042), uric acid (OR: 0.996; 95% CI: 0.991-0.999; P =0.031), Alberta Stroke Program Early CT Score (ASPECTS) (OR: 0.700; 95% CI: 0.563-0.870; P <0.001), cerebral cortex infarction (OR: 0.294; 95% CI: 0.168-0.515; P <0.001), and massive cerebral infarction (OR: 3.683; 95% CI: 3.025-5.378; P <0.001) were independently associated with HT. We have developed a model incorporating these variables. The area under the curve of the predictive model was 0.87 (95% CI: 0.83-0.92), demonstrating satisfactory predictive ability with a sensitivity of 83.5% and a specificity of 76.4%.</p><p><strong>Conclusions: </strong>Our predictive model, which integrates age, LDL-C, uric acid, ASPECTS, cerebral cortex infarction, and massive cerebral infarction, can be used to predict HT after AIS in patients with AF, thereby facilitating the mitigation of adverse outcomes.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"28-33"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774255","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 Intracranial Hemorrhages in Cerebral Venous Thrombosis: A Pictorial Case Series and Review of Pathophysiology and Management.","authors":"Shreyashi Jha, Karthik Kulanthaivelu, Pritam Raja, Raghavendra Kenchiah, Subasree Ramakrishnan, Girish Baburao Kulkarni, Ajay Asranna","doi":"10.1097/NRL.0000000000000604","DOIUrl":"10.1097/NRL.0000000000000604","url":null,"abstract":"<p><strong>Objective: </strong>We aim to provide a pictorial representation of the broad spectrum of intracranial hemorrhages associated with cerebral venous thrombosis (CVT), emphasizing atypical locations and rare intracerebral hemorrhage (ICH) types. We also hypothesize the pathophysiology leading to atypical locations of the ICH in CVT and the outcomes with anticoagulation therapy.</p><p><strong>Background: </strong>ICH complicates about 40% of cases with CVT and is known to cause various types of ICH, including subarachnoid hemorrhage (SAH) and subdural hemorrhage (SDH). A combination of hemorrhages is also reported.</p><p><strong>Methods: </strong>Patients with computed tomography and magnetic resonance imaging findings consistent with CVT examined between January 2011 and June 2014 were included in this retrospective review. Demographic and clinical data and imaging findings were reviewed with particular attention to the type and location of ICH and sinus involvement. Treatment details and 3-month outcomes, assessed using the modified Rankin Scale, were analyzed.</p><p><strong>Results: </strong>Eleven patients (9 males), ranging in age from 22 years to 58 years, were included. The most common clinical presentations were headache (n = 8) and seizures (n = 7). Intraparenchymal hemorrhages were most common (n = 7), followed by SDH and SAH (n = 4), intraventricular hemorrhage (IVH; n = 3), and juxtacortical hemorrhage (n = 1). All patients who received anticoagulation therapy (n = 11) experienced complete resolution of their symptoms, and the median modified Rankin Scale was 0.</p><p><strong>Conclusions: </strong>The spectrum of intracranial hemorrhages seen in association with CVT is broad, encompassing atypical locations like basal ganglia, external capsule, and cerebellar hemispheres, and involves multiple intracranial compartments-IVH, SAH, and SDH. While SAH and SDH are seen with superior sagittal sinus thrombosis, ICH is common with lateral sinus thrombosis, and IVH with deep venous thrombosis.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"45-51"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773687","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":"Shortened NIHSS for Rapid Stroke Assessment in Emergency Care Settings.","authors":"Sama Rahnemayan, Alireza Ala, Nasrin Taghizadeh, Elyar Sadeghi-Hokmabadi, Ipak Entezari, Samad Shamsvahdati","doi":"10.1097/NRL.0000000000000608","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000608","url":null,"abstract":"<p><strong>Objectives: </strong>The National Institutes of Health Stroke Scale (NIHSS) is widely used to assess ischemic stroke severity, but its full 11-item version can be time-consuming. This study evaluates the NIHSS-8, a shortened version, for its efficacy compared with NIHSS-11 in an emergency department setting.</p><p><strong>Methods: </strong>A cohort study was conducted from May 2018 to May 2019 at Imam Reza Hospital, Tabriz, Iran. Patients with suspected acute stroke were assessed using both NIHSS-11 and NIHSS-8. The modified Rankin Scale (mRS) was used to evaluate patient outcomes at discharge. Correlations between NIHSS-8, NIHSS-11, and mRS were analyzed, and diagnostic performance metrics were calculated.</p><p><strong>Results: </strong>The study included 292 patients with a mean age of 70.40 years. Approximately 68.5% of patients were categorized as having moderate stroke severity using NIHSS-11, with a similar 67.1% using NIHSS-8. The correlation between NIHSS-11 and NIHSS-8 scores was high (intraclass correlation coefficient of 0.970). Both scales showed strong relationships with mRS at discharge but were not significantly correlated with long-term outcomes. NIHSS-8 demonstrated a sensitivity of 97.5% and specificity of 96.9%, while NIHSS-11 showed 100% sensitivity and 96.9% specificity.</p><p><strong>Conclusions: </strong>NIHSS-8 is a reliable and efficient alternative to NIHSS-11 for assessing stroke severity in emergency departments. It provides high sensitivity and specificity while being less time-consuming, making it suitable for rapid stroke assessment and triage.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899862","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":"Basilar Dolichoarteriopathy and Early Clinical Deterioration in Acute Isolated Pontine Infarction.","authors":"Dogan D Oge, Ethem M Arsava, Mehmet A Topcuoglu","doi":"10.1097/NRL.0000000000000606","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000606","url":null,"abstract":"<p><strong>Objectives: </strong>Early clinical worsening (ECW) in acute isolated pontine infarcts (AIPI) is frequent, associated with poor prognosis, and its predictors have not been adequately clarified. A possible role of dolichoectatic basilar artery (BA) anatomy in ECW in patients with AIPI is herein studied.</p><p><strong>Methods: </strong>In 146 AIPI patients, infarcts were grouped into tegmental, lateral, anterolateral, anteromedial horizontally; and low, mid, mid-up, and upper pontine vertically. BA dolichoectasia was categorized according to Smoker criteria. An additional criteria of BA laterality angle was described. The length between the infarct long-axis and BA cross-sectional center was measured, and named as \"branch length (BL).\" ECW was defined as any increase in NIHSS.</p><p><strong>Results: </strong>ECW was seen in 22 (15%) patients. Univariate analysis documented a higher female ratio (22% vs. 10%, P=0.007), higher atrial fibrillation (18% vs. 7%, P=0.067), more common anteromedial infarct location (77% vs. 49%, P=0.025), and Smoker category-3 BA height (32% vs. 10%, P=0.043) in these patients. In anteromedial infarcts, BL was longer (8.3 vs. 6.1 mm, P=0.052), and reaching to significance in those located at mid-up/upper pontine level (1.22 vs. 0.62 mm, P=0.006). BL >4.4 mm showed an acceptable discriminatory capacity for ECW with an AUC of ROC: 0.615 (95% CI: 0.511-0.712). A regression model indicated female sex (β±SE=1.129±0.551, P=0.040), BL (per 4.4 mm, β±SE=1.236±0.614, P=0.044), and BA height-category-3 (β±SE=1.711±0.645, P=0.008) as independent predictors for ECW.</p><p><strong>Conclusions: </strong>Some features of basilar dolichoarteriopathy, such as the extreme location of the height of the BA tip and the length of the involved perforator in the prepontine cistern, may be predictors of early clinical worsening in acute isolated pontine infarcts.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819817","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":"Ethnicity as a Risk Factor for Early Neurological Deterioration: A Post Hoc Analysis of the Secondary Prevention of Small Subcortical Strokes Trial.","authors":"Eric D Goldstein, Sabrina Q R Liew, Liqi Shu, Alicia Rocha, Shadi Yaghi","doi":"10.1097/NRL.0000000000000605","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000605","url":null,"abstract":"<p><strong>Objectives: </strong>Nearly 25% of those with a small vessel stroke will develop early neurological deterioration (END). The objectives of this study were to identify clinical risk factors for small vessel stroke-related END and its associated impact on functional outcomes in an ethnically diverse data set.</p><p><strong>Methods: </strong>We performed a post hoc analysis of the \"Secondary Prevention of Small Subcortical Strokes\" trial. The primary outcome was END defined as progressive or stuttering stroke-related neurological symptoms. Standard descriptive and inferential statistical methods were used for analysis. Functional outcomes are reported by modified Rankin Scale score and analyzed by the Wilcoxon signed-rank test.</p><p><strong>Results: </strong>In all, 69 participants met the inclusion criteria; 21 (30%) had END. Of the cohort, Spanish, Hispanic, or Latino ethnicity (grouping per trial definition) most frequently developed END [11 (52.4%) vs 4 (8.3%), P < 0.001] with a higher adjusted likelihood of END (odds ratio: 14.1, 95% CI: 2.57-76.7, P = 0.002). Black or African-American race less commonly had END [3 (14.3%) vs 21 (43.8%), P = 0.03] but lost significance after adjustment (odds ratio: 1.46, 95% CI: 0.26-8.17, P = 0.67) due to powering. END was associated with a higher mean modified Rankin Scale (2.06 ± 0.94 vs 1.17 ± 0.79, P = 0.006) but did not differ in the shift analysis.</p><p><strong>Conclusions: </strong>We found that Spanish, Hispanic, or Latino ethnicity was the most consistent risk factor for END though it was without meaningful functional outcome differences.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796509","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":"Therapeutic Efficacy of Tirofiban Combined With Thrombus Aspiration and Stent Thrombectomy in the Treatment of Large Vessel Occlusion Ischemic Stroke.","authors":"Yang Jiao, Xiaoli Wang, Yaxin Guan, Xinxin Wang, Zhaosheng Li, Xiuzhi Xiang, Zhongmin Zhang","doi":"10.1097/NRL.0000000000000603","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000603","url":null,"abstract":"<p><strong>Objective: </strong>This research aimed to ascertain the effects of tirofiban combined with thrombus aspiration and stent thrombectomy on large vessel occlusion ischemic stroke (LVO-IS).</p><p><strong>Methods: </strong>Sixty patients with acute ischemic stroke (AIS) caused by LVO were randomized into the control group and the intervention group (n=30). Patients in the control group received thrombus aspiration combined with stent thrombectomy, while those in the intervention group were treated with tirofiban combined with thrombus aspiration and stent thrombectomy. General data, perioperative-related indicators, cerebral blood flow perfusion, coagulation function indicators, and neurological function indicators were collected, and the prognosis was observed after 3-month treatment.</p><p><strong>Results: </strong>A comparison of symptomatic cerebral hemorrhage rate and hospital mortality rate between the 2 groups displayed no significant difference (P>0.05). The rate of revascularization in the intervention group (90.00%) was higher versus the control group (66.67%). After treatment, the mean blood flow and cerebral blood volume of the intervention group were higher and the time to peak cerebral blood flow was less versus the control group. The prothrombin time, activated partial thromboplastin time, and prothrombinogen time of the intervention group were higher, and fibrinogen was lower versus the control group. A lower National Institutes of Health Stroke Scale score was observed in the intervention group versus the control group.</p><p><strong>Conclusions: </strong>Tirofiban combined with thrombus aspiration and stent thrombectomy has good efficacy in LVO-IS patients.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796513","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":"Expansive Arterial Remodeling and Its Risk Factors in Cerebral Infarction: A Retrospective Study.","authors":"Bingzheng Gong, Ying Pian, Qichao Yang, Jingjun Zhang","doi":"10.1097/NRL.0000000000000600","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000600","url":null,"abstract":"<p><strong>Objective: </strong>Cerebral infarction (CI) is a prevalent and frequently occurring condition. However, the association between expansive remodeling in the carotid artery system and CI is still uncertain. This study aims to investigate the significance of the carotid artery system and aortic arch (AA) remodeling for the prevention and treatment of CI.</p><p><strong>Methods: </strong>We collected data from 821 patients who underwent computed tomography angiography at our hospital, performed statistical analysis, and compared it with various clinical data.</p><p><strong>Results: </strong>We found that the diameters and detection rates of the common carotid artery (CCA), internal carotid artery (ICA), carotid bifurcation, and AA were significantly greater in the CI group than in the without CI group (P<0.05). The number of carotid sinus plaque (CSP) and the length of aortic arch plaque (AAP) were considered to be 2 important factors in predicting CCA remodeling. Moreover, the thickness of AAP was considered to be an important factor in predicting AA remodeling.</p><p><strong>Conclusions: </strong>Patients with CI exhibited a significant increase in the diameter of the carotid system and AA, which correlated with certain features of arterial plaque. Hence, early detection of arterial plaques, along with interventions to delay or potentially reverse expansive arterial remodeling, may be effective in preventing and treating CI.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774243","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":"Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review.","authors":"Yumei Geng, Chang Cai, Huimin Li, Qing Zhou, Mengying Wang, Huicong Kang","doi":"10.1097/NRL.0000000000000601","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000601","url":null,"abstract":"<p><strong>Introduction: </strong>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease with slow natural progression. Ischemic stroke and cognitive impairment are its most common clinical symptoms. Here, we report a rare 50-year-old woman who had rapid disease progression with c.457C>T, p.Argl53Cys heterozygous mutation in exon 4 of NOTCH3 and discuss the possible reasons. Furthermore, we summarized the clinical and neuroimaging characteristics of 14 CADASIL patients with Arg153Cys mutation in exon 4.</p><p><strong>Case report: </strong>The proband suffered acute ischemic stroke 5 times in 5 months, followed by rapidly progressive dementia (RPD) and inability to live independently, though she didn't have vascular risk factors and had been under standardized secondary prevention therapy since the first stroke. Magnetic resonance imaging showed extensive white matter hyperintensities, numerous ischemic infarcts and microbleeds, and severe brain atrophy. Her elder brother and other patients with Arg153Cys mutation in exon 4 all did not progress so quickly. Her multiple strokes may be associated with the poor self-regulation of vessels, which may promote the occurrence of RPD. Antiplatelet and anticoagulant drugs were difficult to prevent ischemic strokes. Severe imaging findings may indicate rapid progression of CADASIL. In addition, we found that headache was a very frequent symptom in CADASIL patients with Arg153Cys mutation in exon 4, accounting for 76.9%.</p><p><strong>Conclusions: </strong>CADASIL can also appear to have rapid progression, as illustrated by our proband, which is worthy of clinicians' attention and intervention timely. Headache may present in a relatively higher proportion of CADASIL patients with Arg153Cys mutation in exon 4.</p>","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717427","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}