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Effectiveness of Progressive Resistance Training in Parkinson's Disease: A Systematic Review and Meta-Analysis. 进行性阻力训练治疗帕金森病的有效性:一项系统综述和荟萃分析
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1159/000527029
Xiaoxia Yang, Zhiyun Wang

Introduction: The aim of this study was to systematically explore progressive resistance training (PRT) effects in Parkinson's disease (PD).

Methods: Eligible literature was systematically searched from five electronic databases (PubMed, Web of Science, Ovid, Wanfang, and China National Knowledge Infrastructure) from their inception to February 2022. Included studies were selected based on strict eligibility criteria. RevMan 5.3 software was used for statistical analysis.

Results: A total of 14 studies with 761 PD patients were selected for eligibility in this systematic review and meta-analysis. A total of 383 performed trunk or upper or lower extremity PRT and 378 underwent balance training, modified fitness counts, or did not change their lifestyle. The results demonstrated positive PRT effect on freezing of gait (standardized mean difference [SMD] = -0.55, 95% CI = -0.95 to -0.16, p = 0.006), muscular strength (SMD = 1.9, 95% CI = 0.55-3.24, p = 0.006), and quality of life (SMD = -0.86, 95% CI = -1.66 to -0.06, p = 0.04) in adults with PD compared with other training programmes but not for gait velocity, stride length, timed up and go test, and Berg Balance Scale.

Conclusions: This meta-analysis revealed that PRT had positive effects on freezing of gait, muscle strength, and improved quality of life during rehabilitation in PD patients.

本研究的目的是系统地探讨进行性阻力训练(PRT)在帕金森病(PD)中的作用。方法:系统检索5个电子数据库(PubMed、Web of Science、Ovid、万方、中国国家知识基础设施)自建库至2022年2月的符合条件的文献。纳入的研究是根据严格的资格标准选择的。采用RevMan 5.3软件进行统计分析。结果:本次系统评价和荟萃分析共纳入14项研究,共纳入761例PD患者。总共有383人进行了躯干或上肢或下肢PRT, 378人进行了平衡训练,修改了健康计数,或者没有改变他们的生活方式。结果显示,与其他训练方案相比,PRT对成年PD患者的步态静止(标准化平均差[SMD] = -0.55, 95% CI = -0.95至-0.16,p = 0.006)、肌肉力量(SMD = 1.9, 95% CI = 0.55至3.24,p = 0.006)和生活质量(SMD = -0.86, 95% CI = -1.66至-0.06,p = 0.04)有积极影响,但对步态速度、步幅、计时和行走测试和Berg平衡量表没有影响。结论:本荟萃分析显示,PRT对PD患者康复期间的步态冻结、肌肉力量和改善生活质量具有积极作用。
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引用次数: 1
Interleukin-33 as a Biomarker Affecting Intrathecal Synthesis of Immunoglobulin in Neuromyelitis Optica Spectrum Disorder and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease. 白介素-33在视神经脊髓炎和髓鞘少突胶质细胞糖蛋白抗体相关疾病中影响鞘内免疫球蛋白合成的生物标志物
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1159/000530437
Mengyu Wang, Dongxia Xia, Lin Sun, Jianzhong Bi, Keqin Xie, Pin Wang

Introduction: The purpose of this study was to analyze IL-33 maybe as a biomarker especially with respect to intrathecal immunoglobulin G (IgG) synthesis which was involved in the immune-mediated process in the demyelinating disease of the central nervous system.

Methods: We aimed to determine the risk association of the serum and CSF levels of IL-33 in aquaporin-4 (AQP4)+neuromyelitis optica spectrum disorder (NMOSD) patients and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) patients compared with the control group. Levels of inflammatory (IL-2, IL-4, IL-6, and IL-10) markers and QAlb, the IgG index, and 24-h IgG synthesis rate were assessed in 28 AQP4+NMOSD patients and 11 MOGAD patients. Disease severity was assessed using the Expanded Disability Status Scale (EDSS).

Results: The level of IL-33 in serum decreased first but then increased gradually in AQP4+NMOSD and MOGAD. The serum level of IL-2, IL-4, and IL-10 increased more significantly and decreased more rapidly after methylprednisolone treatment. The level of IL-33 in CSF increased progressively in AQP4+NMOSD and MOGAD, especially in MOGAD. The QAlb levels were increased significantly in the CSF of MOGAD patients and AQP4+NMOSD patients on the acute stage of the disease. The IgG index and 24-h IgG synthesis rate were also increased significantly in the CSF of two groups similarly.

Conclusions: Thus, we concluded that IL-33 may induce dysfunction of the blood-brain barrier and lead to intrathecal synthesis of immunoglobulin in the AQP4+NMOSD and MOGAD, especially in MOGAD. It maybe as a biomarker, at least in part, was involved in the demyelinating diseases of the central nervous system.

本研究的目的是分析IL-33可能作为生物标志物,特别是在鞘内免疫球蛋白G (IgG)合成方面,参与中枢神经系统脱髓鞘疾病的免疫介导过程。方法:我们旨在确定与对照组相比,水通道蛋白-4 (AQP4)+视神经脊髓炎谱系障碍(NMOSD)患者和髓鞘少突胶质细胞糖蛋白抗体相关疾病(MOGAD)患者血清和CSF中IL-33水平的风险相关性。对28例AQP4+NMOSD患者和11例MOGAD患者进行炎症(IL-2、IL-4、IL-6、IL-10)标志物和QAlb水平、IgG指数和24小时IgG合成率的测定。使用扩展残疾状态量表(EDSS)评估疾病严重程度。结果:AQP4+NMOSD和MOGAD组血清IL-33水平先降低后逐渐升高。甲强的松龙治疗后血清IL-2、IL-4、IL-10水平升高更明显,降低更快。在AQP4+NMOSD和MOGAD中,CSF中IL-33水平逐渐升高,尤其是在MOGAD中。MOGAD患者和AQP4+NMOSD患者脑脊液中QAlb水平在疾病急性期显著升高。两组脑脊液中IgG指数和24 h IgG合成率均明显升高。结论:在AQP4+NMOSD和MOGAD中,IL-33可能诱导血脑屏障功能障碍,导致鞘内免疫球蛋白合成,尤其是在MOGAD中。它可能是一种生物标志物,至少在某种程度上,与中枢神经系统脱髓鞘疾病有关。
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引用次数: 0
CSF White Blood Cell Count in Diagnosis of Neurosyphilis. 脑脊液白细胞计数在神经梅毒诊断中的应用。
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 Epub Date: 2023-11-07 DOI: 10.1159/000534415
Duyu Ding
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引用次数: 0
Relationship between Peripheral Blood Inflammatory Factors and Prognosis of Subarachnoid Hemorrhage: A Meta-Analysis. 外周血炎症因子与蛛网膜下腔出血预后关系的meta分析。
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1159/000530208
Lu Peng, Xiang Li, Hang Li, Yi Zhong, Jinrong Lian, Heng Gao, Gang Chen

Introduction: Subarachnoid hemorrhage (SAH) is a severe cerebrovascular event with high mortality and disability rate. Neuroinflammation is involved in the brain injury after SAH, but the exact association between SAH progression and peripheral blood inflammatory factors is unknown. Therefore, to determine the relationship between inflammatory factors and the prognosis of SAH, we performed a meta-analysis.

Method: A systematic literature review was conducted in PubMed, Embase, and the Cochrane Library. Studies comparing the relationship between inflammatory factors (C-reactive protein [CRP], interleukin-6 [IL-6], interleukin-10 [IL-10], and tumor necrosis factor [TNF-α]) and prognosis of SAH were included in the study. A random-effects meta-analysis was conducted based on mRS, GOS, and the occurrence of cerebral vasospasm, delayed cerebral ischemia, and delayed ischemic neurologic deficits. Sensitivity analysis was performed using the leave-one-out method. The Newcastle-Ottawa Scale (NOS) for case-control studies was used to assess the quality of included studies. For continuous variables, we calculated the mean difference with a 95% confidence interval (CI).

Results: 1,469 patients from 18 case-control studies met the inclusion criteria. The results found that patients in the good outcome group had significantly lower CRP levels than those in the poor outcome group (SMD: -1.15, 95% CI: -1.64 to -0.66, p < 0.00001, I2 = 87%), and peripheral IL-6 levels were significantly lower in SAH patients with the good functional outcome than those with the poor functional outcome (SMD: -0.99, 95% CI: -1.48 to -0.51, p < 0.0001, I2 = 88%). As for IL-10 (SMD: -0.28, 95% CI: -0.97 to 0.42, p = 0.43, I2 = 88%) and TNF-α (SMD: -0.40, 95% CI: -0.98 to 0.19, p = 0.18, I2 = 79%), due to the small number of studies, heterogeneity, and uncontrollable factors, robust conclusions cannot be drawn.

Conclusion: SAH patients with good prognoses have significantly lower peripheral CRP and IL-6 levels. In addition, due to the small number of studies, heterogeneity, and uncontrollable factors, robust conclusions cannot be drawn for IL-10 and TNF-α. More high-quality studies are needed in the future to provide more specific recommendations for the clinical practice of inflammatory factors.

蛛网膜下腔出血(SAH)是一种死亡率和致残率高的严重脑血管事件。神经炎症参与SAH后的脑损伤,但SAH进展与外周血炎症因子之间的确切关联尚不清楚。因此,为了确定炎症因子与SAH预后之间的关系,我们进行了荟萃分析。方法:系统查阅PubMed、Embase、Cochrane图书馆的相关文献。比较炎症因子(c -反应蛋白[CRP]、白细胞介素-6 [IL-6]、白细胞介素-10 [IL-10]、肿瘤坏死因子[TNF-α])与SAH预后的关系。基于mRS、GOS和脑血管痉挛、迟发性脑缺血、迟发性缺血性神经功能缺损的发生情况进行随机效应荟萃分析。采用留一法进行敏感性分析。病例对照研究的纽卡斯尔-渥太华量表(NOS)用于评估纳入研究的质量。对于连续变量,我们以95%置信区间(CI)计算平均差值。结果:来自18项病例对照研究的1469例患者符合纳入标准。结果发现,预后良好组患者的CRP水平显著低于预后不良组患者(SMD: -1.15, 95% CI: -1.64 ~ -0.66, p <0.00001, I2 = 87%),功能结局良好的SAH患者外周血IL-6水平显著低于功能结局较差的SAH患者(SMD: -0.99, 95% CI: -1.48 ~ -0.51, p <0.0001, i2 = 88%)。至于IL-10 (SMD: -0.28, 95% CI: -0.97 ~ 0.42, p = 0.43, I2 = 88%)和TNF-α (SMD: -0.40, 95% CI: -0.98 ~ 0.19, p = 0.18, I2 = 79%),由于研究数量少,存在异质性和不可控因素,无法得出可靠的结论。结论:预后良好的SAH患者外周血CRP和IL-6水平明显降低。此外,由于研究数量少、异质性和不可控因素,IL-10和TNF-α之间的关系尚不能得出可靠的结论。未来需要更多高质量的研究,为炎症因子的临床实践提供更具体的建议。
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引用次数: 1
Clinical Manifestations of Subjective Sleep Disorders in Chinese Patients with Parkinson's Disease and Their Relationship with Dopaminergic Drugs. 中国帕金森病患者主观睡眠障碍的临床表现及其与多巴胺能药物的关系
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 Epub Date: 2023-09-06 DOI: 10.1159/000533905
Dongdong Wu, Jing He, Kai Li, Huijing Liu, Ying Jin, Wei Du, Xinxin Ma, Yunfei Long, Shuhua Li, Wen Su, Haibo Chen

Introduction: Sleep disorders are common in Parkinson's disease (PD) and significantly impact quality of life. Herein, we surveyed the incidence and severity of sleep disorders in Chinese PD patients and observed their relationship with dopaminergic drugs.

Methods: We collected the demographic and disease information of 232 PD patients. The incidence and severity of sleep disorders were surveyed with the Parkinson's disease sleep scale (PDSS) Chinese version. Data on dopaminergic drug intake were collected and converted to levodopa equivalent doses (LED).

Results: The average total score of PDSS in 232 patients was 119.3 ± 19.7. There was a significant difference in PDSS scores between groups classified by the Hoehn-Yahr (H&Y) stage, but not between the groups classified by the type of dopaminergic drugs. Stepwise regression analysis revealed that the LED of dopaminergic drugs taken before bedtime (p < 0.00), LED of dopaminergic drugs taken over a 24-h period (p < 0.00), and scores of the Hamilton Rating Scale for Depression (HAMD) (p = 0.01) were determinants of PDSS.

Conclusion: Sleep disorders in PD patients may be multifactorial. High dosage of dopaminergic drugs taken prior to sleep, daily total high dosage of dopaminergic drugs, and depression exert negative effects on subjective sleep. The timing and dosage of dopaminergic drugs taken before bedtime should be considered in PD management.

简介:睡眠障碍是帕金森病(PD)的常见病,严重影响患者的生活质量。在此,我们调查了中国帕金森病患者睡眠障碍的发生率和严重程度,并观察了其与多巴胺能药物的关系:方法:我们收集了 232 名帕金森病患者的人口统计学和疾病信息。方法:我们收集了 232 名帕金森病患者的人口统计学和疾病信息,并使用帕金森病睡眠量表(PDSS)中文版调查了睡眠障碍的发生率和严重程度。收集多巴胺能药物摄入量数据,并转换为左旋多巴当量剂量(LED):232名患者的PDSS平均总分为(119.3±19.7)分。按Hoehn-Yahr(H&Y)分期划分的组间PDSS评分有明显差异,但按多巴胺能药物类型划分的组间无明显差异。逐步回归分析显示,睡前服用多巴胺能药物的发光二极管(p <0.00)、24小时内服用多巴胺能药物的发光二极管(p <0.00)和汉密尔顿抑郁评分量表(HAMD)得分(p = 0.01)是PDSS的决定因素:结论:帕金森病患者的睡眠障碍可能是多因素造成的。结论:帕金森病患者的睡眠障碍可能是多因素造成的,睡前服用高剂量的多巴胺能药物、每天服用高剂量的多巴胺能药物以及抑郁症都会对主观睡眠产生负面影响。在进行帕金森病治疗时,应考虑睡前服用多巴胺能药物的时间和剂量。
{"title":"Clinical Manifestations of Subjective Sleep Disorders in Chinese Patients with Parkinson's Disease and Their Relationship with Dopaminergic Drugs.","authors":"Dongdong Wu, Jing He, Kai Li, Huijing Liu, Ying Jin, Wei Du, Xinxin Ma, Yunfei Long, Shuhua Li, Wen Su, Haibo Chen","doi":"10.1159/000533905","DOIUrl":"10.1159/000533905","url":null,"abstract":"<p><strong>Introduction: </strong>Sleep disorders are common in Parkinson's disease (PD) and significantly impact quality of life. Herein, we surveyed the incidence and severity of sleep disorders in Chinese PD patients and observed their relationship with dopaminergic drugs.</p><p><strong>Methods: </strong>We collected the demographic and disease information of 232 PD patients. The incidence and severity of sleep disorders were surveyed with the Parkinson's disease sleep scale (PDSS) Chinese version. Data on dopaminergic drug intake were collected and converted to levodopa equivalent doses (LED).</p><p><strong>Results: </strong>The average total score of PDSS in 232 patients was 119.3 ± 19.7. There was a significant difference in PDSS scores between groups classified by the Hoehn-Yahr (H&amp;Y) stage, but not between the groups classified by the type of dopaminergic drugs. Stepwise regression analysis revealed that the LED of dopaminergic drugs taken before bedtime (p &lt; 0.00), LED of dopaminergic drugs taken over a 24-h period (p &lt; 0.00), and scores of the Hamilton Rating Scale for Depression (HAMD) (p = 0.01) were determinants of PDSS.</p><p><strong>Conclusion: </strong>Sleep disorders in PD patients may be multifactorial. High dosage of dopaminergic drugs taken prior to sleep, daily total high dosage of dopaminergic drugs, and depression exert negative effects on subjective sleep. The timing and dosage of dopaminergic drugs taken before bedtime should be considered in PD management.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"377-386"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10541781","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
Advances in Futile Reperfusion following Endovascular Treatment in Acute Ischemic Stroke due to Large Vessel Occlusion. 大血管闭塞性急性缺血性脑卒中血管内治疗后无效再灌注的研究进展。
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1159/000528922
Liyuan Wang, Yunyun Xiong

Background: Futile reperfusion (FR) is becoming an urgent issue for acute ischemic stroke patients who underwent endovascular treatment (EVT). Although the recanalization rate has improved after EVT, it is far from translating to increased tissue reperfusion and functional independence.

Summary: Many underlying mechanisms including the "no-reflow" phenomenon, poor collateral flow, venous dysfunction, and inflammation were proposed, but the pathophysiology of FR is still unclear. Clinically, reliable predictors are still yet to be identified, and ongoing trials on shortening the time delay and cytoprotection may provide novel ideas for interventions of FR.

Key messages: This review will summarize the latest advances in FR and hopefully shed light on potential interventions.

背景:对于接受血管内治疗(EVT)的急性缺血性卒中患者来说,无效再灌注(FR)是一个迫切需要解决的问题。虽然EVT后再通率有所提高,但远未转化为组织再灌注增加和功能独立性。摘要:人们提出了许多潜在的机制,包括“无回流”现象、侧支血流不良、静脉功能障碍和炎症,但FR的病理生理机制尚不清楚。临床上,可靠的预测因素仍有待确定,正在进行的缩短时间延迟和细胞保护的试验可能为FR的干预提供新的思路。本文将总结FR的最新进展,并希望为潜在的干预措施提供线索。
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引用次数: 2
Microcirculation No-Reflow Phenomenon after Acute Ischemic Stroke. 急性缺血性脑卒中后微循环无回流现象。
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1159/000528250
Jiaqi Hu, Ding Nan, Yuxuan Lu, Zhenyu Niu, Yingying Ren, Xiaozhong Qu, Yining Huang, Haiqiang Jin

Background: The no-reflow phenomenon refers to a failure to restore normal cerebral microcirculation despite brain large artery recanalization after acute ischemic stroke, which was observed over 50 years ago.

Summary: Different mechanisms contributing to no-reflow extend across the endovascular, vascular wall, and extravascular factors. There are some clinical tools to evaluate cerebral microvascular hemodynamics and represent biomarkers of the no-reflow phenomenon. As substantial experimental and clinical data showed that clinical outcome was better correlated with reperfusion status rather than recanalization in patients with ischemic stroke, how to address the no-reflow phenomenon is critical. But effective treatments for restoring cerebral microcirculation have not been well established until now, so there is an urgent need for novel therapeutic perspectives to improve outcomes after recanalization therapies.

Conclusion: Here, we review the occurrence of the no-reflow phenomenon after ischemic stroke and discuss its impact, detection method, and therapeutic strategies on the course of ischemic stroke, from basic science to clinical findings.

背景:无回流现象是指50多年前观察到的急性缺血性脑卒中后,尽管脑大动脉再通,但仍未能恢复正常的大脑微循环。总结:导致无血流再流的不同机制涉及血管内、血管壁和血管外因素。有一些临床工具来评估大脑微血管血流动力学和代表无回流现象的生物标志物。大量的实验和临床数据表明,缺血性脑卒中患者的临床预后与再灌注状态的关系大于与再通的关系,因此如何解决无再流现象至关重要。但迄今为止,恢复大脑微循环的有效治疗方法尚未得到很好的建立,因此迫切需要新的治疗观点来改善再通治疗后的预后。结论:本文综述了缺血性脑卒中后无血流现象的发生,并从基础科学到临床表现,讨论了无血流现象对缺血性脑卒中病程的影响、检测方法和治疗策略。
{"title":"Microcirculation No-Reflow Phenomenon after Acute Ischemic Stroke.","authors":"Jiaqi Hu,&nbsp;Ding Nan,&nbsp;Yuxuan Lu,&nbsp;Zhenyu Niu,&nbsp;Yingying Ren,&nbsp;Xiaozhong Qu,&nbsp;Yining Huang,&nbsp;Haiqiang Jin","doi":"10.1159/000528250","DOIUrl":"https://doi.org/10.1159/000528250","url":null,"abstract":"<p><strong>Background: </strong>The no-reflow phenomenon refers to a failure to restore normal cerebral microcirculation despite brain large artery recanalization after acute ischemic stroke, which was observed over 50 years ago.</p><p><strong>Summary: </strong>Different mechanisms contributing to no-reflow extend across the endovascular, vascular wall, and extravascular factors. There are some clinical tools to evaluate cerebral microvascular hemodynamics and represent biomarkers of the no-reflow phenomenon. As substantial experimental and clinical data showed that clinical outcome was better correlated with reperfusion status rather than recanalization in patients with ischemic stroke, how to address the no-reflow phenomenon is critical. But effective treatments for restoring cerebral microcirculation have not been well established until now, so there is an urgent need for novel therapeutic perspectives to improve outcomes after recanalization therapies.</p><p><strong>Conclusion: </strong>Here, we review the occurrence of the no-reflow phenomenon after ischemic stroke and discuss its impact, detection method, and therapeutic strategies on the course of ischemic stroke, from basic science to clinical findings.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":"86 2","pages":"85-94"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9511895","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: 3
Popeye Sign: Look at the Heart (and the Nerves). 大力水手星座:看心脏(和神经)。
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1159/000530453
Angela Romano, Valeria Guglielmino, Maria Ausilia Sciarrone, Francesca Vitali, Marco Luigetti
is not required for Neurologic Images.
{"title":"Popeye Sign: Look at the Heart (and the Nerves).","authors":"Angela Romano,&nbsp;Valeria Guglielmino,&nbsp;Maria Ausilia Sciarrone,&nbsp;Francesca Vitali,&nbsp;Marco Luigetti","doi":"10.1159/000530453","DOIUrl":"https://doi.org/10.1159/000530453","url":null,"abstract":"is not required for Neurologic Images.","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":"86 4","pages":"285-286"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10567183","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
NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors. 两个意大利家庭中P440L突变引起的nefl相关的夏-玛丽牙病:扩大表型和确定调节因素
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1159/000529706
Antonio Petrucci, Ludovico Lispi, Matteo Garibaldi, Erika Frezza, Francesca Moro, Roberto Massa, Filippo Maria Santorelli

Introduction: Mutations in the neurofilament polypeptide light chain (NEFL) gene account for <1% of all forms of Charcot-Marie-Tooth (CMT) diseases and present with different phenotypes, including demyelinating, axonal and intermediate neuropathies, and with diverse pattern of transmission, with dominant and recessive inheritance being described.

Methods: Here, we present clinical and molecular data in two new unrelated Italian families, affected with CMT.

Results: We studied fifteen subjects (11 women, 4 men), age range 23-62 year. Onset of symptoms was mainly in childhood, with running/walking difficulties; some patients were pauci-asymptomatic; almost all shared variably distributed features of absent/reduced deep tendon reflexes, impaired gait, reduced sensation, and distal weakness in the legs. Skeletal deformities were seldom documented and were of mild degree. Additional features included sensorineural hearing loss in 3 patients, underactive bladder in 2 patients, and cardiac conduction abnormalities, requiring pacemaker implantation, in one child. Central nervous system (CNS) impairment was not documented in any subject. Neurophysiological investigation disclosed feature suggestive of demyelinating sensory-motor polyneuropathy in one family and resembling an intermediate form in the other. Multigene panel analysis of all known CMT genes revealed two heterozygous variants in NEFL: p.E488K and p.P440L. While the latter change segregated with the phenotype, the p.E488K variant appeared to act as a modifier factor being associated with axonal nerve damage.

Conclusions: CMT related to P440L mutation in NEFL is associated with a mild, childhood-onset phenotype, showing prevalently sensory distal limbs involving and with motor impairment predominantly involving anterolateral leg muscles, in the absence of CNS involvement. Additional findings, never reported so far in patients with NEFL mutation, are cardiological and urinary dysfunctions. Our study expands the array of clinical features associated with NEFL-related CMT.

简介:神经丝多肽轻链(NEFL)基因突变占所有CMT疾病的1%,表现为不同的表型,包括脱髓鞘、轴突和中间神经病变,并且具有多种传播模式,有显性遗传和隐性遗传。方法:在这里,我们提出了两个新的无血缘关系的意大利家庭的临床和分子数据,影响CMT。结果:研究对象15例(女11例,男4例),年龄23 ~ 62岁。症状主要发生在儿童期,有跑/走困难;部分患者无明显症状;几乎所有患者都具有深部肌腱反射缺失/减少、步态受损、感觉减弱和腿部远端无力等不同分布的特征。骨骼畸形很少被记录,并且是轻度的。其他特征包括3例感音神经性听力丧失,2例膀胱活动不足,1例患儿心脏传导异常,需要植入起搏器。中枢神经系统(CNS)损伤未在任何受试者中发现。神经生理学研究揭示了一个家族脱髓鞘感觉-运动多神经病变的特征,而另一个家族类似于中间形式。所有已知CMT基因的多基因面板分析显示NEFL有两个杂合变异:p.E488K和p.P440L。虽然后一种变化与表型分离,但p.E488K变体似乎是与轴突神经损伤相关的修饰因子。结论:NEFL中与P440L突变相关的CMT与轻度儿童期发病表型相关,在没有中枢神经系统受累的情况下,普遍表现为感觉远端肢体受累和主要累及腿前外侧肌肉的运动障碍。在NEFL突变患者中尚未报道的其他发现是心脏病和泌尿功能障碍。我们的研究扩展了nefl相关CMT的临床特征。
{"title":"NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.","authors":"Antonio Petrucci,&nbsp;Ludovico Lispi,&nbsp;Matteo Garibaldi,&nbsp;Erika Frezza,&nbsp;Francesca Moro,&nbsp;Roberto Massa,&nbsp;Filippo Maria Santorelli","doi":"10.1159/000529706","DOIUrl":"https://doi.org/10.1159/000529706","url":null,"abstract":"<p><strong>Introduction: </strong>Mutations in the neurofilament polypeptide light chain (NEFL) gene account for &lt;1% of all forms of Charcot-Marie-Tooth (CMT) diseases and present with different phenotypes, including demyelinating, axonal and intermediate neuropathies, and with diverse pattern of transmission, with dominant and recessive inheritance being described.</p><p><strong>Methods: </strong>Here, we present clinical and molecular data in two new unrelated Italian families, affected with CMT.</p><p><strong>Results: </strong>We studied fifteen subjects (11 women, 4 men), age range 23-62 year. Onset of symptoms was mainly in childhood, with running/walking difficulties; some patients were pauci-asymptomatic; almost all shared variably distributed features of absent/reduced deep tendon reflexes, impaired gait, reduced sensation, and distal weakness in the legs. Skeletal deformities were seldom documented and were of mild degree. Additional features included sensorineural hearing loss in 3 patients, underactive bladder in 2 patients, and cardiac conduction abnormalities, requiring pacemaker implantation, in one child. Central nervous system (CNS) impairment was not documented in any subject. Neurophysiological investigation disclosed feature suggestive of demyelinating sensory-motor polyneuropathy in one family and resembling an intermediate form in the other. Multigene panel analysis of all known CMT genes revealed two heterozygous variants in NEFL: p.E488K and p.P440L. While the latter change segregated with the phenotype, the p.E488K variant appeared to act as a modifier factor being associated with axonal nerve damage.</p><p><strong>Conclusions: </strong>CMT related to P440L mutation in NEFL is associated with a mild, childhood-onset phenotype, showing prevalently sensory distal limbs involving and with motor impairment predominantly involving anterolateral leg muscles, in the absence of CNS involvement. Additional findings, never reported so far in patients with NEFL mutation, are cardiological and urinary dysfunctions. Our study expands the array of clinical features associated with NEFL-related CMT.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":"86 3","pages":"185-192"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9778299","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
Visual Working Memory Capacity in Patients with Temporal Lobe Glioma. 颞叶胶质瘤患者的视觉工作记忆能力。
IF 2.4 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1159/000528014
Shengyuan Ni, Peng Chen, Yang Yang, Dejun Bao, Rui Zhang, Qi Pang

Introduction: Working memory (WM) refers to the temporary storage and manipulation of information. Short-term memory storage can be divided into separate subsystems for verbal information and visual information. We explored the capacity of visual WM in patients with temporal lobe glioma.

Methods: In this study, we assessed 30 patients with temporal lobe glioma and 30 healthy controls (HCs) using a method that combined memory tests with visual WM tasks (digital span task, spatial capacity N-back task, and emotional N-back task).

Results: The results revealed that groups did not differ in terms of demographics, estimated intelligence, and level of psyc distress. For visual WM tasks, statistically significant differences were not found on the 1-back tasks and forward versions of simple span tasks between the temporal patient (TP) group and the HC group. Analysis of correct responses of the experimental tasks suggested that the TP group was significantly different from the HC group in the 2-back tasks and backward versions of simple span tasks. For reaction times, spatial capacity 2-back task and emotional 2-back task showed the TP group was significantly different from the HC group.

Conclusion: These findings revealed that visual WM scores of temporal glioma patients were lower than HCs, and hence, the temporal lobe may be a certain neuroanatomical structure in the WM network.

工作记忆(Working memory, WM)是指对信息的临时存储和操作。短期记忆存储可分为语言信息和视觉信息两个子系统。我们探讨了颞叶胶质瘤患者的视觉WM功能。方法:在本研究中,我们使用记忆测试与视觉WM任务(数字广度任务、空间容量N-back任务和情绪N-back任务)相结合的方法评估了30名颞叶胶质瘤患者和30名健康对照(hc)。结果:结果显示各组在人口统计学、估计智力和心理困扰水平方面没有差异。对于视觉WM任务,时间病人(TP)组和HC组在简单跨度任务的1-back和forward版本上没有发现统计学上的显著差异。实验任务的正确反应分析表明,TP组与HC组在简单跨度任务的2-back任务和向后版本上存在显著差异。在反应时间、空间容量2-back任务和情绪2-back任务上,TP组与HC组有显著差异。结论:颞叶胶质瘤患者视觉WM评分低于hc,提示颞叶可能是WM网络中的某一神经解剖结构。
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引用次数: 0
期刊
European Neurology
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