Neurologist最新文献_第2页

Isolated Foot Drop: An Unusual Presentation of a Disabling NIHSS 0 Stroke. 孤立性足下垂：NIHSS 0中风的一种不寻常的表现。

IF 1.1 4区医学

Neurologist Pub Date : 2025-07-01 DOI: 10.1097/NRL.0000000000000620

Rosa Couto, Ana Lúcia Oliveira, Mariana Diogo, Miguel Rodrigues

引用次数: 0

Are Noncancerous Gynecologic Conditions or Pregnancy Risk Factors for Ischemic Stroke in Cervical Artery Dissection? 非癌性妇科疾病或妊娠是否是颈动脉夹层缺血性卒中的危险因素？

IF 1.1 4区医学

Neurologist Pub Date : 2025-07-01 DOI: 10.1097/NRL.0000000000000596

Waseem Wahood, Bilal Bucak, Carlee I Oakley, Zafer Keser

{"title":"Are Noncancerous Gynecologic Conditions or Pregnancy Risk Factors for Ischemic Stroke in Cervical Artery Dissection?","authors":"Waseem Wahood, Bilal Bucak, Carlee I Oakley, Zafer Keser","doi":"10.1097/NRL.0000000000000596","DOIUrl":"10.1097/NRL.0000000000000596","url":null,"abstract":"Objective: Cervical artery dissection (CeAD) was previously thought to be more common in men, but recent epidemiology studies show a disproportionate increase in the incidence of CeAD in women. In addition to sex-based differences in clinical presentation, there are unique biological risk factors for CeAD in women. Identifying risk factors for ischemic stroke in CeAD is crucial in individualizing treatment options. Herein, we utilized an inpatient cohort to investigate whether noncancerous gynecologic conditions or pregnancy are risk factors for ischemic stroke in CeAD.Methods: The National Inpatient Sample was queried from 2016 to 2020 for patients diagnosed with CeAD using the International Classification of Diseases, 10th edition, correction of the mean codes. Diagnoses of pregnancy/puerperium and noncancerous gynecologic conditions were identified. Among CeAD admissions, acute ischemic stroke (AIS) was also identified. Hierarchical, multivariable regression, adjusted for patient demographics and medical comorbidities, was conducted to assess factors associated with AIS.Results: A total of 34,925 women with CeAD were identified. Of these women, 2.1% were pregnant or up to six weeks postpartum, 1.3% had a noncancerous gynecologic condition, and 0.09% had both active pregnancy/puerperium and a noncancerous gynecologic condition. Noncancerous gynecologic conditions (odds ratio = 1.86, P = 0.012) were found to be an independent risk factor for AIS in CeAD but not active pregnancy/puerperium (odds ratio = 0.84, P = 0.34).Conclusion: In this national inpatient sample of female patients with CeAD, the presence of noncancerous gynecologic conditions is associated with an increased risk of AIS. Further studies are needed to validate this observation and help guide the best antithrombotic treatment decisions in this patient population.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"191-195"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755547","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

Nomogram Model for Predicting the Functional Outcomes in Patients With Minor Ischemic Stroke Based on Clinical Characteristics and Small Vessel Disease Burden. 基于临床特征和小血管疾病负担预测轻度缺血性脑卒中患者功能结局的Nomogram模型

IF 1.1 4区医学

Neurologist Pub Date : 2025-07-01 DOI: 10.1097/NRL.0000000000000614

Ruqian He, Xiaona Xu, Xiachan Chen, Haoye Cai, Xuerong Huang, Hao Shu

{"title":"Nomogram Model for Predicting the Functional Outcomes in Patients With Minor Ischemic Stroke Based on Clinical Characteristics and Small Vessel Disease Burden.","authors":"Ruqian He, Xiaona Xu, Xiachan Chen, Haoye Cai, Xuerong Huang, Hao Shu","doi":"10.1097/NRL.0000000000000614","DOIUrl":"10.1097/NRL.0000000000000614","url":null,"abstract":"Objectives: Our purpose is to assess the role of total small vessel disease (SVD) burden affecting the clinical outcome and develop and validate a prognostic nomogram for minor ischemic stroke (MIS) patients.Methods: Between January 2018 and April 2023, 454 MIS patients were enrolled. The functional outcome was the modified Rankin scale (mRS) score at 90 days. The least absolute shrinkage and selection operator (LASSO) regression and multivariate logistic regression model were used to identify prognostic predictors, and then a nomogram was drawn.Results: Our nomogram comprising of systolic blood pressure (SBP), baseline National Institutes of Health Stroke Scale score (NIHSS), total SVD burden scores, coronary heart disease, disabling stroke, progressive stroke, alteplase treatment, and infarction location demonstrated a good discriminative power in both the training set (AUC=0.870; 95% CI: 0.827-0.912) and the internal validation set (AUC=0.876; 95% CI: 0.817-0.935). The calibration curve and DCA in our result showed the model's high degree of calibration and clinical value. The DeLong test was used to compare the AUCs between the nomogram and non-SVD burden score model in the training ( P =0.028) and internal validation sets ( P =0.013), indicating that our nomogram performs significantly better than the non-SVD burden score model.Conclusions: The SVD burden is an important prognosis factor. Furthermore, the proposed nomogram has good discrimination, calibration, and clinical benefits and is better than the non-SVD burden score model in predicting the outcomes for MIS patients.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"212-221"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659432","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

Embolic Hippocampal Infarct From Ipsilateral Tandem Carotid Stenosis: A Case Report and Lesson on Hippocampal Dual Vascular Supply. 同侧串联颈动脉狭窄致栓塞性海马梗死1例及对海马双血管供应的启示。

IF 1.1 4区医学

Neurologist Pub Date : 2025-07-01 DOI: 10.1097/NRL.0000000000000610

Samantha J Brown, Jennifer Nikolova, Monica Nitu, Justin Cramer, Oana Dumitrascu

{"title":"Embolic Hippocampal Infarct From Ipsilateral Tandem Carotid Stenosis: A Case Report and Lesson on Hippocampal Dual Vascular Supply.","authors":"Samantha J Brown, Jennifer Nikolova, Monica Nitu, Justin Cramer, Oana Dumitrascu","doi":"10.1097/NRL.0000000000000610","DOIUrl":"10.1097/NRL.0000000000000610","url":null,"abstract":"Introduction: Although primarily supplied by the vertebrobasilar system, the hippocampus is partially supplied by ipsilateral carotid artery branches through the anterior choroidal artery or a prominent posterior communicating artery. We report a patient with acute hippocampus infarction likely due to symptomatic ipsilateral tandem carotid stenosis and discuss acute vascular-mediated hippocampal injury.Case report: An 80-year-old female with obesity, dyslipidemia, hypertension, alcohol use disorder, history of breast cancer on letrozole, and traumatic brain injury was brought into our emergency department for 24 hours of confusion. On examination, she exhibited limited registration, recall, and executive dysfunction with otherwise normal language, visuo-spatial orientation, and praxis. Brain MRI showed a small area of diffusion restriction in the anterior right hippocampus with matched FLAIR hyperintensity, consistent with acute infarction. Computed tomography angiogram head and neck showed 90% stenosis of the proximal right internal carotid artery (ICA), <50% narrowing of the proximal left ICA, and moderate bilateral narrowing of the paraclinoid ICAs, all due to calcific atheromatous plaques. The etiology of the hippocampal infarction was suspected embolism from the ipsilateral severe carotid stenosis. Planning for right cervical carotid revascularization ensued.Conclusion: This case highlights the dual hippocampal vascular supply and that hippocampal embolic infarcts could be a sign of a symptomatic severe carotid artery stenosis that may require urgent revascularization for stroke secondary prevention.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"257-260"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057084","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

Development and Application of a Machine Learning-Based Predictive Model for Carotid Restenosis After Interventional Surgery in Elderly Ischemic Stroke Patients. 基于机器学习的老年缺血性脑卒中介入手术后颈动脉再狭窄预测模型的建立与应用

IF 1.1 4区医学

Neurologist Pub Date : 2025-06-11 DOI: 10.1097/NRL.0000000000000627

Xianmei Wu, Xiaoyang Wang, Hongmei Lin, Yanbo Zhang, Yanchun Jiang, Bangzhi Jiang

{"title":"Development and Application of a Machine Learning-Based Predictive Model for Carotid Restenosis After Interventional Surgery in Elderly Ischemic Stroke Patients.","authors":"Xianmei Wu, Xiaoyang Wang, Hongmei Lin, Yanbo Zhang, Yanchun Jiang, Bangzhi Jiang","doi":"10.1097/NRL.0000000000000627","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000627","url":null,"abstract":"Objective: This study aims to develop a machine learning-based risk prediction model for carotid restenosis in elderly ischemic stroke patients after interventional surgery.Methods: We collected clinical data from 371 elderly ischemic stroke patients who underwent carotid interventional surgery between January 2020 and December 2023, as training dataset. Various machine learning methods were applied to analyze and compare the predictive performance of different models. In addition, data from 75 cases collected between January and June 2024 was as a validation set to assess model applicability.Results: Six factors influencing carotid restenosis were identified: homocysteine (Hcy), platelet count (PLT), platelet distribution width (PDW), mean platelet volume (MPV), Interleukin-6 (IL-6), and C-reactive protein (CRP). Machine learning models were developed, with the Gradient Boosting Machine showing the best performance (AUROC=0.969). Other models included support vector machine (AUROC=0.962), logistic regression (AUROC=0.945), decision tree (AUROC=0.885), and extreme gradient boosting (AUROC=0.753). The GBM model's predictive variable ranking was Hcy, IL-6, CRP, PDW, PLT, and MPV. In the validation set, the GBM model demonstrated excellent performance, with an AUC 0.939, sensitivity 0.909, specificity 0.969, accuracy 0.960, negative predictive value 0.984, and positive predictive value 0.833.Conclusion: Our research showed that compared with other machine learning algorithms, the GBM model demonstrates the best accuracy and stability in predicting the risk of carotid restenosis after interventional surgery in elderly ischemic stroke patients, and it has high clinical application value.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267820","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

Current Approach to Perioperative Evaluation of Neurological Diseases. 神经系统疾病围手术期评估的最新方法。

IF 1.1 4区医学

Neurologist Pub Date : 2025-06-04 DOI: 10.1097/NRL.0000000000000632

Özdem Ertürk Çetin, Özlem Totuk, İpek Güngör Doğan, Gözde Eryiğit Baran, Beril Taşdelen, Didem Darici, Efe Erci, Güldeniz Çetin Erci, Damla Çetinkaya Tezer, Pinar Bekdik, Esra Adiyeke, Serkan Demir, Şevki Şahin

{"title":"Current Approach to Perioperative Evaluation of Neurological Diseases.","authors":"Özdem Ertürk Çetin, Özlem Totuk, İpek Güngör Doğan, Gözde Eryiğit Baran, Beril Taşdelen, Didem Darici, Efe Erci, Güldeniz Çetin Erci, Damla Çetinkaya Tezer, Pinar Bekdik, Esra Adiyeke, Serkan Demir, Şevki Şahin","doi":"10.1097/NRL.0000000000000632","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000632","url":null,"abstract":"Background: The perioperative period refers to the 3 phases of the surgical procedure: preoperative, intraoperative, and postoperative. Proper management of chronic diseases in the perioperative period plays a critical role in improving patient outcomes and requires a multidisciplinary approach. Perioperative management of neurological diseases can be challenging due to their chronic nature and the necessity for multiple drug use in neurological disorders, which may potentially interact with anesthetics.Review summary: This review summarizes the perioperative management of various neurological disorders, including epilepsy, dementia, acute confusional state, movement disorders, stroke, demyelinating diseases, neuromuscular disorders, sleep disorders, and headache.Conclusion: Perioperative management of patients with neurological diseases requires a comprehensive, multidisciplinary approach tailored to the specific needs of each condition. Adherence to evidence-based guidelines not only ensures patient safety but also enhances recovery, reducing morbidity and mortality in this vulnerable patient population.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217392","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

Determinants of the Recommendation of High-Resolution Vessel Wall Imaging for Young Patients With Posterior Circulation Ischemic Strokes. 年轻后循环缺血性脑卒中患者推荐高分辨率血管壁成像的决定因素

IF 1.1 4区医学

Neurologist Pub Date : 2025-06-04 DOI: 10.1097/NRL.0000000000000631

Mei Li, Yi Liu, Fei Zhou, Yun Xu, Jiahui Zhang, Shuwei Qiu

{"title":"Determinants of the Recommendation of High-Resolution Vessel Wall Imaging for Young Patients With Posterior Circulation Ischemic Strokes.","authors":"Mei Li, Yi Liu, Fei Zhou, Yun Xu, Jiahui Zhang, Shuwei Qiu","doi":"10.1097/NRL.0000000000000631","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000631","url":null,"abstract":"Objectives: High-resolution vessel wall imaging (HRVWI) has emerged as a crucial diagnostic method for improving the etiological classification of ischemic strokes, especially in younger patients. This study seeks to identify the factors that influence neurologists' decisions to recommend HRVWI for young individuals experiencing posterior circulation strokes.Methods: In this retrospective study, we assessed the effect of HRVWI on the Trial of Org 10,172 in Acute Stroke Treatment (TOAST) classification among patients aged 45 years or younger with acute ischemic strokes in the posterior circulation. Logistic regression analysis was performed to determine the factors that predict HRVWI recommendations.Results: Among 135 young stroke patients, 57 underwent HRVWI. The patients who received HRVWI were slightly younger (mean age 35.75 vs. 37.85 y; P=0.07). The use of HRVWI significantly changed the TOAST classification, increasing the identification of strokes attributed to other determined causes (ODC) from 28.2% to 50.9% and decreasing strokes of undetermined causes (UDC) from 18.0% to 7.0%. Notably, vertebrobasilar artery dissections (VBADs) were more frequently detected in the HRVWI group (82.8%) compared with the non-HRVWI group (21.1%). Multivariate logistic regression identified younger age, vertebrobasilar artery tortuosity, and stenosis or occlusion as significant predictors for HRVWI scans (age: P=0.044; tortuosity: P=0.006; stenosis or occlusion: P=0.021; respectively).Conclusions: HRVWI may be considered for young stroke patients with abnormal arterial structures in the posterior circulation, as it significantly enhances the etiological classification of ischemic strokes.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217393","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

Efficacy of Human Urinary Kallidinogenase in Real-world Patients With Acute Ischemic Stroke: A Matched Comparison. 人尿钾碱二原酶在现实世界急性缺血性脑卒中患者中的疗效：一项匹配比较。

IF 1.1 4区医学

Neurologist Pub Date : 2025-05-19 DOI: 10.1097/NRL.0000000000000623

Yue Zhang, Xintong Luo, Xiujuan Song, Jiamin Li, Yonggang Liu, Lina Wang, Guojun Tan

{"title":"Efficacy of Human Urinary Kallidinogenase in Real-world Patients With Acute Ischemic Stroke: A Matched Comparison.","authors":"Yue Zhang, Xintong Luo, Xiujuan Song, Jiamin Li, Yonggang Liu, Lina Wang, Guojun Tan","doi":"10.1097/NRL.0000000000000623","DOIUrl":"https://doi.org/10.1097/NRL.0000000000000623","url":null,"abstract":"Objectives: We aimed to investigate the efficacy and safety of human urinary kallidinogenase (HUK) in real-world patients with acute ischemic stroke (AIS).Methods: AIS patients with prospective follow-up between April 2019 and June 2022 were enrolled in this study. Based on their treatment, the eligible patients were separated into 2 groups: the HUK group and the non-HUK group. Propensity score matching (PSM) analysis was used to reduce the biases from the unequal distribution of initial characteristics. The validated clinical composite scoring system was used to evaluate the neurological recovery. The safety outcomes include stroke recurrence, all-cause mortality, and major complications.Results: A total of 312 patients were enrolled in each of the 2 groups, and there were no significant differences in baseline characteristics between them. After treatment, both groups of AIS patients achieved favorable neurological outcomes. The National Institute of Health Stroke Scale (NIHSS) scores at discharge (3.47±3.41 vs. 4.37±2.85) demonstrated better neurological recovery in the HUK group. At the 90-day assessment, patients in the HUK group exhibited a higher incidence of favorable functional outcome (modified Rankin Scale score of 0 to 2, 74.68% vs. 60.58%), and lower risk of stroke recurrence (2.88% vs. 6.73%). The all-cause mortality (1.60% vs. 2.24%) was not significantly different between both groups.Conclusions: HUK improved neurological and functional outcomes in patients with AIS in a large real-world population and had an acceptable safety profile.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095464","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

Expansive Arterial Remodeling and Its Risk Factors in Cerebral Infarction: A Retrospective Study. 脑梗死扩张性动脉重构及其危险因素的回顾性研究。

IF 1.1 4区医学

Neurologist Pub Date : 2025-05-01 DOI: 10.1097/NRL.0000000000000600

Bingzheng Gong, Ying Pian, Qichao Yang, Jingjun Zhang

{"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":"10.1097/NRL.0000000000000600","url":null,"abstract":"Objective: 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.Methods: We collected data from 821 patients who underwent computed tomography angiography at our hospital, performed statistical analysis, and compared it with various clinical data.Results: 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.Conclusions: 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.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"132-139"},"PeriodicalIF":1.1,"publicationDate":"2025-05-01","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}

引用次数: 0

Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review. CADASIL患者短期频繁复发的缺血性脑卒中后迅速进展的痴呆：病例报告与文献综述

IF 1.1 4区医学

Neurologist Pub Date : 2025-05-01 DOI: 10.1097/NRL.0000000000000601

Yumei Geng, Chang Cai, Huimin Li, Qing Zhou, Mengying Wang, Huicong Kang

{"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":"10.1097/NRL.0000000000000601","url":null,"abstract":"Introduction: 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.Case report: 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%.Conclusions: 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.","PeriodicalId":49758,"journal":{"name":"Neurologist","volume":" ","pages":"182-189"},"PeriodicalIF":1.1,"publicationDate":"2025-05-01","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}

引用次数: 0