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中华神经科杂志
中华神经科杂志

崔丽英

月刊

1006-7876

zhsjkzz@126.com

010-85158266

100710

北京市东城区东四西大街42号

中华神经科杂志/Journal Chinese Journal of NeurologyCSCD北大核心CSTPCD
查看更多>>1955年3月，中国科协主管，中华医学会主办。本刊是神经科专业学术期刊，2003—2009年连续5年荣获“百种中国杰出学术期刊”称号，2005年荣获国家新闻出版总署颁发的国家期刊奖“第三届国家期刊奖百种重点期刊”。本刊在1576种中国科技论文统计源期刊中，综合排名均列“神经精神医学类”期刊首位。目前我刊已被全国神经病学界公认为反映我国神经病科学研究和临床进展的最高级学术刊物。
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    来源不明的栓塞性卒中：10年得与失

    田成林郑晴
    201-205页
    查看更多>>摘要：来源不明的栓塞性卒中（ESUS）是一个国际工作组在2014年提出的概念，旨在以此界定一类卒中患者，并探索在这类卒中人群中应用抗凝治疗进行二级预防的合理性。概念提出10年以来，研究者们针对ESUS的发病机制和防治策略进行了大量研究，但其结果与概念提出当时的一些推测和设想并不十分一致。本文在回顾10年来有关ESUS研究发现的基础上，对ESUS概念中的内在缺陷、研究发现的解读、如何重新认识ESUS的意义以及未来缺血性卒中病因诊断的策略进行了讨论。 Embolic stroke of undetermined source (ESUS) is a concept proposed by an international working group in 2014 to define a class of stroke patients and explore the rationality of secondary prevention by anticoagulation in them. During the decade since the concept was proposed, numerous studies have been conducted on the pathogenesis and prevention strategies of ESUS. However, the research results are not quite consistent with the speculations and assumptions when the concept was proposed. Based on the review of the findings of related studies over the past decade, this article discusses the inherent defects in the ESUS concept, the new idea derived from the research results, the future role of ESUS, and trends in etiological diagnosis of ischemic stroke.

    卒中抗凝药栓塞动脉粥样硬化来源不明的栓塞性卒中

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    常用脑影像技术在脑卒中诊断中的应用指南

    徐运彭斌王拥军汪谋岳...
    206-224页
    查看更多>>摘要：脑卒中具有高发病率、高复发率、高死亡率和高致残率的特点，居全球疾病前3位，早期识别和诊治是改善脑卒中转归的重要举措，而影像技术在其中具有重要地位。中华医学会神经病学分会及其脑血管病学组成立诊断指南制订专家委员会，结合国内外脑卒中诊治的最新指南和临床研究结果，根据我国脑卒中的实际临床诊治需求，在原来指南基础上进行修订，制订了《常用脑影像技术在脑卒中诊断中的应用指南》。 Stroke has the characteristics of high morbidity, high recurrence, high mortality and high disability, ranking among the top 3 diseases around the world. Early identification, diagnosis and treatment is a crucial measure to improve the outcome of stroke, and imaging technology plays an important role. Based on the latest domestic and foreign guidelines for the diagnosis and treatment of stroke and the results of clinical studies, Chinese Society of Neurology and Chinese Stroke Society developed the Guidelines for the application of common brain imaging technologies in diagnosis of stroke on the basis of the original guidelines, according to the actual clinical diagnosis and treatment needs of stroke in China.

    卒中脑影像技术诊断指南

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    尤瑞克林用药时长对急性缺血性脑卒中患者疗效和安全性的影响——RESK研究亚组分析

    倪俊姚明王丽华于明...
    225-232页
    查看更多>>摘要：目的 探究尤瑞克林不同用药时长对急性缺血性脑卒中患者疗效和安全性的影响。 方法 本研究为RESK研究的亚组分析。从2015年8月到2020年6月共纳入65个中心的990例脑卒中患者，根据尤瑞克林用药时间长短分为短时用药组（用药8 d，n=185）和长时用药组（用药15 d和21 d，n=805）。分析患者90 d 改良Rankin量表（mRS）评分为 0分、0~1分和0~2分的患者比例，22 d 美国国立卫生研究院卒中量表（NIHSS）评分较基线的变化，90 d Barthel指数≥95分患者比例和不良事件发生率。采用χ2检验、单因素和多因素Logistic回归分析等进行组间比较。 结果 多因素回归分析结果显示，短时用药组和长时用药组90 d mRS评分 0~2分的患者比例［74.1%（137/185）比75.0%（604/805）；OR=1.047，95%CI 0.676~1.620，P=0.838］和22 d NIHSS评分较基线的变化［（4.60±2.00）分比（4.26±2.80）分；OR=-0.390，95%CI -1.125~0.344，P=0.297］，差异均无统计学意义；90 d mRS评分0~1分的患者比例［48.1%（89/185）比59.1%（476/805）；OR=0.674，95%CI 0.463~0.983，P=0.041］和90 d Barthel指数≥95分患者比例［43.6%（79/181）比55.1%（442/802）；OR=0.614，95%CI 0.420~0.897，P=0.012］，在短时用药组均显著低于长时用药组。两组不良事件的发生率差异无统计学意义。 结论 对于急性缺血性脑卒中患者，尤瑞克林连续用药8 d即可改善患者近期（22 d NIHSS评分）和远期疗效（90 d mRS 评分0~2分），且安全耐受。在条件允许的情况下，增加尤瑞克林用药时长可显著提高患者远期无残疾率（90 d mRS 评分0~1分）和生活质量（90 d Barthel指数），且不增加不良事件风险。 Objective To explore the impact of treatment duration with human urinary kallidinogenase (HUK) on the efficacy and safety of acute ischemic stroke (AIS). Methods In this subgroup analysis of RESK study, a total of 990 AIS patients recruited from 65 centers in China between August 2015 and June 2020 were included and divided into short medication group (HUK for 8 days, n=185) or long medication group (HUK for 15 days or 21 days, n=805). The proportions of patients with modified Rankin Scale (mRS) score of 0, 0-1, 0-2 at 90 days, National Institutes of Health Stroke Scale (NIHSS) score change from baseline to 22 days, the proportions of patients with Barthel index (BI)≥95 at 90 days, and the incidences of adverse events were analyzed. Comparisons between groups were conducted using chi-square test, single factor and multivariate Logistic regression analysis, etc. Results Multivariate regression analysis showed that the proportions of patients with 90-day mRS score of 0-2 [74.1% (137/185) vs 75.0% (604/805) OR=1.047, 95%CI 0.676-1.620, P=0.838] and 22-day NIHSS score change from baseline (4.60±2.00 vs 4.26±2.80 OR=-0.390, 95%CI -1.125-0.344, P=0.297) showed no statistically significant difference between the short medication and long medication groups the proportions of patients with 90-day mRS score of 0-1 [48.1% (89/185) vs 59.1% (476/805) OR=0.674, 95%CI 0.463-0.983, P=0.041] and 90-day BI≥95 [43.6% (79/181) vs 55.1% (442/802) OR=0.614, 95%CI 0.420-0.897, P=0.012] were significantly lower in the short medication group than in the long medication group. There was no statistically significant difference in the incidences of adverse events between these 2 groups. Conclusions In AIS patients, consecutive 8-day dosing of HUK improved immediate (22-day NIHSS score) and long-term outcome (90-day mRS score 0-2) and was safely tolerated. When applicable, extended duration of HUK could improve long-term disability-free rate (90-day mRS score 0-1) and quality of life (90-day BI) without increasing the risk of adverse events.

    卒中尤瑞克林治疗效果安全性用药时长

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    隐源性脑卒中合并右向左分流患者的临床和影像特征分析

    杨锦珊林逸凡陈梨花魏慧星...
    233-240页
    查看更多>>摘要：目的 对比分析隐源性脑卒中（CS）合并大小不同分流量的右向左分流（RLS）患者的临床和影像学特点，对其脑卒中发病机制进行推断和总结。 方法 对2012年4月至2022年7月就诊于福建医科大学附属第一医院神经内科、年龄18~65岁的急性缺血性脑卒中患者，根据脑梗死病因TOAST分型标准，对评估为CS的患者行增强经颅多普勒超声（cTCD）检查，将其中有RLS的患者（RLSⅠ~Ⅳ级）分为大分流组（平静呼吸或Valsalva动作后出现Ⅲ~Ⅳ级的RLS）和小分流组（平静呼吸或Valsalva动作后出现Ⅰ~Ⅱ级的RLS），通过卡方检验、Fisher精确概率法、单因素方差分析比较两组之间临床资料及神经影像学特点，并进一步采用Spearman相关分析和多因素Logistic回归分析明确影响RLS的相关因素，推测RLS相关脑卒中的发病机制。 结果 最终将共计167例经cTCD检查有RLS的CS患者纳入本研究，男女比例88∶79，发病年龄（45.27±9.02）岁。大分流组92例（55.1%），发病年龄（45.61±9.32）岁，其中男性35例（38.0%），合并高血压病者9例（9.8%），有吸烟史者18例（19.6%），反常性栓塞风险量表（RoPE）评分为（7.08±0.12）分。小分流组75例（44.9%），发病年龄（44.85±8.68）岁，其中男性53例（70.7%），合并高血压病者29例（38.7%），有吸烟史者31例（41.3%），RoPE评分为（6.20±0.14）分。大分流组男性比例显著低于小分流组（χ2=17.640，P<0.001），有高血压病（χ2=19.611，P<0.001）及吸烟史（χ2=9.443，P<0.01）的比例显著低于小分流组，RoPE评分大于小分流组（F=21.580，P<0.001）。全部6例肺动静脉瘘患者（6.5%，6/92）都在大分流组，小分流组无肺动静脉瘘患者（P<0.05）。两组患者在发病年龄，合并高脂血症、糖尿病，既往脑卒中/短暂性脑缺血发作史，脑卒中家族史方面差异均无统计学意义（均P>0.05）。多因素Logistic回归分析结果显示：女性（OR=2.848，95%CI 1.223~6.632，P<0.05）、无高血压病史（OR=3.937，95%CI 1.593~9.727，P<0.01）和大分流显著相关。对两组患者梗死病灶的影像学表现按血管支配及分布进行比较，结果发现：大分流组梗死病灶位于单侧前循环者54例（58.7%），位于后循环者34例（37.0%），没有同时累及双侧前循环者，前后循环均受累者4例（4.3%）；有皮质梗死者31例（33.7%），有皮质下梗死者9例（9.8%），有深部梗死者36例（39.1%），有混合多发梗死者16例（17.4%）。小分流组病灶位于单侧前循环者36例（48.0%），位于后循环者29例（38.7%），位于双侧前循环者4例（5.3%），前后循环均受累者7例（9.3%）；有皮质梗死者7例（9.3%），有皮质下梗死者8例（10.7%），有深部梗死者39例（52.0%），有混合多发梗死者21例（28.0%）。Logistic回归分析结果显示：皮质梗死灶和大分流显著相关（OR=5.981，95%CI 1.882~19.007，P<0.01），其余病灶分布特征两组差异均无统计学意义（均P>0.05）。 结论 cTCD显示有RLS的CS 患者中，大分流组女性、无合并高血压病者更多，RoPE评分更高，梗死病灶更多见于皮质，推测大的分流与脑卒中的相关性较高，脑卒中合并大的RLS患者的发病机制为栓塞的可能性较大。而小分流组男性、合并高血压者更多，提示脑卒中合并小的RLS患者，动脉粥样硬化更可能为其发病机制。 Objective To investigate the clinical and imaging characteristics of patients with cryptogenic stroke with different right-to-left shunt (RLS) and possible mechanisms. Methods Acute ischemic stroke patients aged 18-65 years, who admitted to the Department of Neurology, the First Affiliated Hospital of Fujian Medical University from April 2012 to July 2022, were etiologically classified according to the TOAST criteria. Cryptogenic stroke patients further underwent contrast-enhanced transcranial Doppler (cTCD) examination. Patients with RLS (RLS grade Ⅰ-Ⅳ) were divided into large shunt group (RLS grade Ⅲ-Ⅳ, under normal breathing or after Valsalva manoeuvre) and small shunt group (RLS grade Ⅰ-Ⅱ, under normal breathing or after Valsalva manoeuvre). The chi-square test,Fisher's exact probability method and one-way analysis of variance were used to compare clinical and neuroimaging data between the 2 groups. And the RLS related factors as well as mechanisms of RLS-related stroke were further discussed through Spearman correlation and multiple Logistic regression analysis. Results A total of 167 cryptogenic stroke patients with RLS were included in this study. The male to female ratio was 88∶79. The onest age was (45.27±9.02) years. In the large shunt group, there were 92 patients (55.1%) with onset age of (45.61±9.32) years. In this group, 35 patients (38.0%) were males, 9 (9.8%) had hypertension, and 18 (19.6%) had smoking history the Risk of Paradoxical Embolism (RoPE) score was 7.08±0.12. In the small shunt group, there were 75 patients (44.9%) with onest age of (44.85±8.68) years. In this group, 53 patients (70.7%) were males, 29 (38.7%) had hypertension, and 31 (41.3%) had smoking history the RoPE score was 6.20±0.14. Males (χ2=17.640, P<0.001) as well as hypertension (χ2=19.611, P<0.001) and smoking history (χ2=9.443, P<0.01) were significantly less common in the large shunt group than in the small shunt group, while the RoPE score in the large shunt group was higher than that in the small shunt group (F=21.580, P<0.001). All 6 pulmonary arteriovenous fistula cases (6.5%, 6/92) belonged to the large shunt group. There was no pulmonary arteriovenous fistula patient in the small shunt group (P<0.05). There were no statistically significant differences in age of onset, hyperlipidemia, diabetes, previous stroke/transient ischemic attack, or family history of stroke between the 2 groups (all P>0.05). Multiple Logistic regression analysis showed that female (OR=2.848, 95%CI 1.223-6.632,P<0.05) and no history of hypertension (OR=3.937, 95%CI 1.593-9.727, P<0.01) were significantly associated with large shunt. The neuroimaging features were analyzed through comparing offending vessels as well as spatial distribution of lesions between the 2 groups. Results showed that infarct location of 54 cases (58.7%) was in the unilateral anterior circulation area, 34 cases (37.0%) in the posterior circulation area, no case in the bilateral anterior circulation area, and both of anterior and posterior circulation areas were involved in 4 cases (4.3%) in the large shunt group. Of all the large shunt group patients, 31 (33.7%) had cortical infarcts, 9 (9.8%) had subcortical infarcts, 36 (39.1%) had deep infarcts, and 16 (17.4%) had mixed multiple infarcts. In the small shunt group, infarct location of 36 cases (48.0%) was in the unilateral anterior circulation area, 29 cases (38.7%) in the posterior circulation area, 4 cases (5.3%) in the bilateral anterior circulation area, and both of anterior and posterior circulation areas were involved in 7 cases (9.3%). Of all the small shunt group patients, 7 (9.3%) had cortical infarcts, 8 (10.7%) had subcortical infarcts, 39 (52.0%) had deep infarcts, and 21 (28.0%) had mixed multiple infarcts. Logistic regression analysis showed that cortical infarction was associated with large shunt (OR=5.981,95%CI 1.882-19.007,P<0.01), and there was no statistically significant difference in other types of infarction distribution between the 2 groups (all P>0.05). Conclusions Among cryptogenic stroke patients with RLS, large shunt was more common in females, patients with no history of hypertension, and those with higher RoPE score as well as more cortical infarction, suggesting that there was a strong link between stroke and large RLS, which revealed the underlying mechanism of embolism in patients with stroke and large RLS. In the small shunt group, there were more males and hypertensive patients, suggesting atherosclerosis was more likely involved in pathogenic mechanism of stroke patients with small RLS.

    超声检查,多普勒,经颅卒中右向左分流

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    豆纹动脉区新发皮质下小梗死扩大的血管周围间隙与脑静脉反流相关

    吴峥嵘张珂宗策刘红兵...
    241-247页
    查看更多>>摘要：目的 总结脑静脉反流（CVR）在新发皮质下小梗死（RSSI）人群中的发生率，并探讨其与扩大的血管周围间隙（EPVS）的相关性。 方法 收集2019年1月至2022年12月入住郑州大学第一附属医院神经内科且诊断为豆纹动脉区RSSI的住院患者。总结入组患者的基线人口学资料、既往史及实验室检查数据。在时间飞跃法磁共振血管成像序列上评估CVR，根据有无CVR将患者分为CVR组和无CVR组，比较两组间的基线资料及实验室检查结果。使用视觉评分量表对EPVS的部位和数量进行评估，将评分较高的EPVS定义为高级别EPVS（HEPVS）；同时对脑白质高信号和腔隙性梗死进行评估，并进行组间比较。通过多因素Logistic回归分析研究EPVS与CVR的相关性。 结果 最终纳入豆纹动脉区RSSI患者571例，其中女性180例（31.5%）；年龄（59.37±12.87）岁；共有73例（12.8%）患者影像学检查结果显示存在CVR，即发生率为12.8%。CVR组（n=73）与无CVR组（n=498）相比，女性比例更低［21.9%（16/73）比32.9%（164/498），χ2=3.578，P=0.059］，既往有吸烟史比例更高［38.4%（28/73）比27.7%（138/498），χ2=3.499，P=0.061］，但差异无统计学意义；CVR组既往有饮酒史［34.2%（25/73）比21.7%（108/498），χ2=5.621，P=0.018］及合并基底节区HEPVS［41.1%（30/73）比 25.3%（126/498），χ2=7.999，P=0.005］的比例更高，差异有统计学意义。多因素 Logistic 回归分析结果显示，基底节区HEPVS与CVR相关（OR=1.988，95%CI 1.190~3.320，P=0.009）。 结论 在RSSI人群中，基底节区EPVS与CVR显著相关，提示静脉功能障碍可能与EPVS的形成关系密切。 Objective To summarize the incidence of cerebral venous reflux (CVR) in patients with recent small subcortical infarct (RSSI) and explore its correlation with enlarged perivascular spaces (EPVS). Methods Patients with RSSI in the lenticulostriate artery admitted to the Department of Neurology of the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2022 were included. The baseline demographic data, medical history, and laboratory results of the patients were collected. CVR was assessed by time-of-flight magnetic resonance angiography. Patients were stratified into 2 groups based on the presence (CVR group) or absence of CVR (non-CVR group), and baseline characteristics as well as laboratory test results were compared between the 2 groups. The location and number of EPVS were evaluated using a visual grading scale, with EPVS with higher scores defined as high-grade EPVS (HEPVS). Simultaneous evaluation of cerebral white matter hyperintensities and lacunar infarctions was conducted, followed by intergroup comparisons. The relationship between EPVS and CVR was studied using multiple Logistic regression analysis. Results A total of 571 patients with RSSI in the lentiform artery area were ultimately included, including 180 females (31.5%). Their age was (59.37±12.87) years. Among them, 73 patients (12.8%) exhibited CVR based on imaging findings, so the incidence of CVR was 12.8%. In comparison between the CVR group (n=73) and the non-CVR group (n=498), the proportion of females [21.9% (16/73) vs 32.9% (164/498), χ2=3.578, P=0.059] was lower and the proportion of history of smoking [38.4% (28/73) vs 27.7% (138/498), χ2=3.499,P=0.061] was higher in the CVR group, but without statistical significance. Additionally, the history of alcohol consumption [34.2% (25/73) vs 21.7% (108/498), χ2=5.621, P=0.018] and the proportion of patients with concomitant HEPVS in the basal ganglia area [41.1% (30/73) vs 25.3% (126/498), χ2=7.999, P=0.005] was higher in the CVR group with statistical significance. Multiple Logistic regression analysis showed that HEPVS in the basal ganglia region remained independently associated with CVR (OR=1.988, 95%CI 1.190-3.320, P=0.009). Conclusion EPVS in the basal ganglia region is significantly associated with CVR in the RSSI population, suggesting that venous dysfunction may be closely related to the formation of EPVS.

    大脑梗死基底神经节脑静脉反流血管周围间隙

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    糖尿病前期周围神经病变的临床和电生理研究

    翦凡陈琳陈娜李景芬...
    248-254页
    查看更多>>摘要：目的 探讨糖尿病前期患者周围神经病变的临床和电生理特点。 方法 收集2019—2022年在首都医科大学附属北京天坛医院招募的20~65岁糖代谢异常风险人群行口服糖耐量试验，前瞻性收集符合美国糖尿病协会诊断标准的空腹血糖受损或糖耐量异常患者，排除可能导致周围神经受损的其他病因及神经根病患者。依据2010年多伦多共识多发性神经病（PN）临床诊断标准，按照是否存在PN的症状体征，将患者划分为临床PN组和临床无PN组。对所有患者行感觉运动神经传导检测（NCS）、F波检测、交感皮肤反应、心率变异率及电流感觉阈值测定（CPT），比较各项检查的异常率，比较临床亚组间各项电生理检查异常率的差异。 结果 最终入组糖尿病前期患者共73例，依据多伦多共识标准可诊断为临床PN的患者仅20例（27.4%）。患者的CPT异常率为68.5%（50/73），显著高于F波、下肢NCS、上肢腕管综合征电生理检查、交感皮肤反应、心率变异率的异常率［分别为2.7%（2/73）、0（0/73）、26.0%（19/73）、6.8%（5/73）、5.5%（4/73），McNemar二项分布精确检验，均P<0.001］。采用2 000 Hz、250 Hz和5 Hz的正弦波电刺激，通过CPT分别检测粗髓鞘、薄髓鞘和无髓鞘的感觉神经纤维的感觉阈值。糖尿病前期患者手部无髓鞘的小纤维（C纤维）异常率［21.9%（16/73）］较粗髓鞘的大纤维（Aβ纤维）异常率高［8.2%（6/73），χ²=5.352，P=0.021］；足部薄髓鞘（Aδ纤维）和无髓鞘的小纤维（C纤维）异常率［42.5%（31/73）和39.7%（29/73）］均较粗髓鞘的大纤维（Aβ纤维）异常率高［11.0%（8/73），χ²=18.508、15.965，均P<0.001）。临床PN组与临床无PN组相比，CPT［90.0%（18/20）与60.4%（32/53），χ²=5.904，P=0.015］和交感皮肤反应［20.0%（4/20）与1.9%（1/53），P=0.016］的异常率显著增高。 结论 糖尿病前期的周围神经病变多无症状或为亚临床周围神经病。糖代谢异常早期最易累及无髓鞘和薄髓鞘的小纤维，可通过选择性检测小神经纤维功能的电生理方法早期发现病损。 Objective To explore the clinical and electrophysiological characteristics of peripheral neuropathy in prediabetic patients. Methods Subjects aged 20-65 years with high-risk factors of impaired glycemia enrolled in Beijing Tiantan Hospital, Capital Medical University from 2019 to 2022 were recruited to conduct oral glucose tolerance test, after excluding other causes of neuropathy or radiculopathy. Patients with impaired fasting glucose or impaired glucose tolerance were defined by American Diabetes Association criteria. These patients were divided into clinical polyneuropathy (PN) and clinical non-PN groups, according to the 2010 Toronto consensus criteria and the presence of PN symptoms and signs or not. Nerve conduction studies (NCS), F wave, sympathetic skin response (SSR), R-R interval variation (RRIV) and current perception thresholds (CPT) were performed and the abnormal rate was compared between different electrodiagnostic methods and between clinical subgroups. Results Among the 73 prediabetic patients ultimately enrolled, only 20 (27.4%) can be diagnosed as clinical PN according to the Toronto consensus criteria. The abnormal rate of CPT (68.5%, 50/73) was significantly higher than those of F wave (2.7%, 2/73), lower limb NCS (0, 0/73), upper limb NCS changes of carpal tunnel syndrome (26.0%, 19/73), SSR (6.8%, 5/73) and RRIV (5.5%, 4/73 McNemar test, all P<0.001). With sinusoid-waveform current stimuli at frequencies of 2 000 Hz, 250 Hz and 5 Hz, the CPT device was used to measure cutaneous sensory thresholds of large myelinated, small myelinated and small unmyelinated sensory fibers respectively. CPT revealed a 21.9% (16/73) abnormal rate of unmyelinated C fiber in the hands of prediabetic patients, significantly higher than that of large myelinated Aβ fibers [8.2% (6/73), χ²=5.352,P=0.021]. Both abnormal rates of small myelinated Aδ [42.5% (31/73)] and unmyelinated C fibers [39.7% (29/73)] in the feet of prediabetic patients were significantly higher than that of large myelinated Aβ fibers [11.0% (8/73), χ²=18.508, 15.965, bothP<0.001]. Compared with the clinical non-PN group, the abnormal rates of CPT [90.0% (18/20)vs 60.4% (32/53), χ²=5.904, P=0.015] and SSR [20.0% (4/20) vs 1.9% (1/53), P=0.016) were significantly higher in the clinical PN group. Conclusions Peripheral neuropathies in prediabetic patients are usually asymptomatic or subclinical, and predispose to affect unmyelinated and small myelinated sensory fibers. Selective electrodiagnostic measurements of small fibers help to detect prediabetic neuropathies in the earliest stages of the disease.

    糖尿病前期周围神经病电生理感觉阈值早期诊断

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    双重任务下的早期帕金森病患者足部运动学定量分析

    王浩浩薛晓帆刘东涛龙舟...
    255-265页
    查看更多>>摘要：目的 探讨认知双重任务下早期帕金森病患者的步态学特征，为帕金森病的早期诊断、及时治疗及合理康复提供敏感的运动学指标。 方法 选取2021年9月至2023年8月首都医科大学附属北京朝阳医院石景山院区门诊及住院的62例早期非震颤型帕金森病患者作为试验组，选择同时期其年龄构成比具有可比性的体检人员或患者家属62名作为健康对照组，比较两组受试者就诊时的基线资料、蒙特利尔认知评估量表（MoCA）和统一帕金森病评定量表（UPDRS）运动部分步态评价得分，应用可穿戴步态分析设备分别采集两组受试者在单任务和双重任务下的步态参数，量化早期帕金森病患者的足部运动学特征。采用独立样本t检验或Mann-Whitney U检验分析两组的步态参数，将有统计学意义的变量纳入Logistic回归分析以探索步态参数与帕金森病的关联，最后通过受试者工作特征（ROC）曲线分析来估计变量的诊断价值。 结果 步态时空参数（每个步态周期）：（1）单任务下行走时，帕金森病组的步速较对照组［（1.01±0.12）m/s比（1.22±0.18）m/s，t=-7.526］减慢，双足支撑时间较对照组［（0.29±0.05）s比（0.22±0.06）s，t=6.659］增加，差异均具有统计学意义（均P<0.001）。（2）双任务下行走时，帕金森病组的步速［（0.88±0.11）m/s比（1.19±0.16）m/s，t=-12.158，P<0.001］较对照组减小，双足支撑时间［（0.36±0.05）s比（0.22±0.05）s，t=12.848，P<0.001］较对照组增加，步幅较对照组［（109.20±6.21）cm比（112.77±5.87）cm，t=-3.203，P=0.010］减小，步频较对照组［（114.45±7.10）步/min比（110.87±7.16）步/min，t=2.724，P=0.020］增加，单足支撑时间较对照组［（0.49±0.12）s比（0.45±0.06）s，t=2.643，P=0.020］增加，以上差异均有统计学意义（均P<0.05）。步态运动学参数：（1）单任务下行走时，帕金森病组运动时足部在矢状面移动的最大角度较对照组（17.19°±2.37°比19.71°±2.92°，t=-4.691，P<0.001）减小，在矢状面移动的最小角度较对照组（-67.08°±4.63°比-70.10°±3.94°，t=0.395，P=0.001）减小（负号代表运动方向）；足部在水平面移动的最小角度较对照组（9.08°±4.02°比11.80°±3.60°，t=-3.461，P<0.001）减小；足部在冠状面移动的最小角度较对照组（-10.55°±2.87°比-12.04°±2.31°，t=2.831，P=0.030）减小（负号仅代表移动方向），足部的着地角度较对照组（11.14°±2.78°比12.78°±3.57°，t=-2.779，P=0.030）减小，差异均具有统计学意义。（2）双重任务行走时，帕金森病组的矢状面最大移动角度（15.44°±2.54°比18.99°±2.71°，t=-6.673，P<0.05）、矢状面最小移动角度（-65.68°±4.73°比-70.02°±4.04°，t=-4.747，P<0.001］、冠状面最小移动角度（-11.15°±2.99°比-13.18°±2.50°，t=3.642，P=0.020）、着地角度（11.01°±3.10°比12.83°±4.01°，t=-2.438，P=0.010）、水平面最小移动角度（8.83°±4.04°比11.83°±3.63°，t=-3.776，P<0.001）以及离地角度（-65.00°±3.54°比-67.06°±3.61°，t=3.133，P<0.001）均较对照组减小，差异均具有统计学意义。Logistis回归分析结果显示步频（OR=1.124，95%CI 1.040~1.201，P=0.001）和冠状面最小移动角度均与帕金森病呈正相关（OR=1.501，95%CI 1.040~2.151，P=0.030），步幅与帕金森病呈负相关（OR=0.902，95%CI 0.830~0.978，P=0.010）。采用ROC曲线评估步频、步幅和冠状面最小移动角度的诊断价值，结果显示对于步频，当约登指数最大为0.880时，区分帕金森病组与对照组的最佳截止值为115.000，敏感度为0.577，特异度为0.710，曲线下面积为0.656。对于冠状面最小移动角度，当约登指数最大为0.251时，区分帕金森病组与对照组的最佳截止值为-12.575，敏感度为0.728，特异度为0.531，曲线下面积为0.670。对于步幅，当约登指数最大为0时，区分帕金森病组与对照组的最佳截止值为100.911，敏感度为0.950，特异度为0.050，曲线下面积为0.300。 结论 步态参数中的步频、冠状面最小移动角度作为反映早期帕金森病步态特征的运动学标志物，在跟踪评价早期帕金森病患者步态障碍特征及预测罹患帕金森病风险大小方面可能有一定帮助。认知-运动双重任务行走时早期帕金森病患者的某些步态参数较健康人有更显著的差异性。 Objective To investigate the gait characteristics of patients with early Parkinson′s disease (PD) under cognitive dual task, and to provide sensitive kinematic indicators for the early diagnosis, timely treatment and reasonable rehabilitation of PD. Methods A total of 62 outpatients and inpatients with early non-tremor Parkinson′s disease in Shijingshan Branch of Beijing Chaoyang Hospital Affiliated to Capital Medical University from September 2021 to August 2023 were selected as experimental group (PD group), and 62 healthy controls with comparable age composition ratio were selected as control group. The baseline data, Montreal Cognitive Assessment Scale scores, and the gait assessment scores of the motor part of the Unified Parkinson′s Disease Rating Scale were compared between the 2 groups. The wearable gait analysis device was used to collect the gait parameters of the 2 groups of subjects under single task and dual task, and the foot kinematic characteristics of the patients with early PD were quantified. Independent sample t test and Mann-Whitney U test were used to analyze the gait parameters of the 2 groups. The statistically significant variables were included in Logistic regression analysis to explore the association between gait parameters and PD. Finally, the diagnostic value of the variables was estimated by receiver operating characteristic (ROC) curve analysis. Results Gait spatio-temporal parameters (per gait cycle): (1) The gait speed of the PD group was slower than that of the control group [(1.01±0.12) m/s vs (1.22±0.18) m/s, t=-7.526] during single task walking. The bipedal support time in the PD group was significantly longer than that in the control group [(0.29±0.05) s vs (0.22±0.06) s, t=6.659]. The differences were both statistically significant (both P<0.001). (2) During dual-task walking, PD patients showed slower gait speed [(0.88±0.11) m/svs (1.19±0.16) m/s, t=-12.158, P<0.001]. The bipedal support time in the PD group was longer than that in the control group [(0.36±0.05) svs (0.22±0.05) s, t=12.828, P<0.001]. PD patients had shorter stride length [(109.20±6.21) cmvs (112.77±5.87) cm, t=-3.203, P=0.010]. Stride frequency in the PD group was higher than that in the control group [(114.45±7.10) steps/min vs (110.87±7.16) steps/min, t=2.724, P=0.020]. The single leg support time was longer than that of the control group [(0.49±0.12) svs (0.45±0.06) s, t=2.643, P=0.020] , and the differences were statistically significant. Gait kinematics parameters: (1) During single task walking, the maximum angle of foot movement in the sagittal plane in the PD group was smaller than that in the control group (17.19°±2.37° vs 19.71°±2.92°, t=-4.691, P<0.001). The minimum angle of movement in the sagittal plane was smaller than that in the control group (-67.08°±4.63°vs -70.10°±3.94°, t=0.395, P=0.001). The minimum horizontal angle of the foot during exercise in the PD group was lower than that in the control group (9.08°±4.02° vs 11.80°±3.60°, t=-3.461, P<0.001). The minimum angle of the foot coronal plane in the PD group was smaller than that in the control group (-10.55°±2.87°vs -12.04°±2.31°, t=2.831, P=0.030 the negative sign only represents the movement direction). The touch angle of the foot in the PD group was significantly lower than that in the control group (11.14°±2.78° vs 12.78°±3.57°, t=-2.779, P=0.030). (2) During dual-task walking, the maximum sagittal angle (15.44°±2.54° vs 18.99°±2.71°, t=-6.673, P<0.05), the minimum angle of sagittal plane (-65.68°±4.73°vs -70.02°±4.04°, t=-4.747, P<0.001 the negative sign only represents the direction of movement), the minimum coronal movement angle (-11.15°± 2.99°vs -13.18°±2.50°, t=3.642, P=0.020), the touch angle (11.01°±3.10° vs 12.83°±4.01°, t=-2.438, P=0.010), the minimum horizontal angle (8.83°±4.04° vs 11.83°±3.63°, t=-3.776, P<0.001), and the change of the angle from the ground (-65.00°±3.54° vs -67.06°±3.61°, t=3.133, P<0.001) in the PD group were all smaller than that in the control group. The differences were all statistically significant. Logistic regression analysis showed that step frequency was positively correlated with PD (OR=1.124,95%CI 1.040-1.201, P=0.001), minimum angle of coronal plane was positively correlated with PD (OR=1.501, 95%CI 1.040-2.151, P=0.030). Stride length was negatively correlated with PD (OR=0.902, 95%CI 0.830-0.978, P=0.010). ROC curve was used to evaluate the diagnostic value of step frequency, stride length and minimum angle of coronal plane. For step frequency, when the maximum Youden index was 0.880, the best cut-off value to distinguish the PD group from the control group was 115.000, the sensitivity was 0.577, the specificity was 0.710, and the area under the curve was 0.656. For the minimum coronal angle, when the maximum Youden index was 0.251, the best cut-off value was -12.575, the sensitivity was 0.728, the specificity was 0.531, and the area under the curve was 0.670. For stride length, when the maximum Youden index was 0, the best cut-off value was 100.91, the sensitivity was 0.950, the specificity was 0.050, and the area under the curve was 0.300. Conclusions Some gait parameters such as step frequency and minimum angle of coronal plane can be used as kinematic markers to reflect the gait characteristics of early PD, which may be helpful in tracking and evaluating the gait disorder characteristics of early PD patients and predicting the risk of PD. Some gait parameters of PD patients are significantly different from those of healthy people during cognitive-motor dual-task walking.

    帕金森病双重任务步态参数分析可穿戴设备

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    STUB1基因变异致常染色体隐性遗传脊髓小脑共济失调16型1例并文献复习

    王光裕刘浩洋王胜军焉传祝...
    266-272页
    查看更多>>摘要：目的 探讨STUB1基因变异所致常染色体隐性脊髓小脑共济失调16型患者的临床特点进而提高临床医生对该病的认识。 方法 收集山东大学齐鲁医院2022年5月确诊的1例常染色体隐性脊髓小脑共济失调16型患者的临床资料、辅助检查和基因检测结果，同时结合相关文献复习，对该类疾病的临床及遗传学特点进行总结。 结果 先证者为35岁男性，临床表现为步态不稳和构音障碍。头颅磁共振检查可见小脑萎缩。二代测序发现患者STUB1基因存在c.322dupG（p.Glu108Glyfs*4）和c.433A>C（p.Lys145Gln）复合杂合突变（参考转录本NM_005861.4）。其中c.322dupG（p.Glu108Glyfs*4）为新突变。家系验证结果显示2个突变分别来自先证者表型正常的父母。通过文献复习检索到既往共12篇外文文献报道的32例常染色体隐性遗传脊髓小脑共济失调16型患者，未检索到相关中文文献报道。总结该病的主要临床表现为共济失调、构音障碍和腱反射亢进，还可伴有眼球震颤、痉挛状态、动作性震颤和肌阵挛等症状。头颅磁共振检查主要表现为小脑萎缩。 结论 STUB1基因变异所致常染色体隐性脊髓小脑共济失调16型在中国较罕见，以小脑共济失调为主要临床表现，影像学检查可见明显的小脑萎缩。基因检测有助于明确诊断。 Objective To discuss the clinical characteristics of autosomal recessive spinocerebellar ataxia type 16 patients caused by STUB1 gene mutation, in order to improve the clinical doctors′ understanding of the disease. Methods The clinical manifestations, auxiliary examinations and genetic testing of 1 autosomal recessive spinocerebellar ataxia type 16 patient caused by STUB1 gene variants diagnosed in Qilu Hospital of Shandong University in May 2022 were collected, and the relevant literature was reviewed to summarize the clinical and genetic characteristics of this type of disease. Results The proband was a 35-year-old male presenting with unsteady walk and dysarthria. Magnetic resonance imaging showed cerebellar atrophy. Next generation sequencing revealed compound heterozygous c.322dupG (p.Glu108Glyfs*4) and c.433A>C (p.Lys145Gln) variants in theSTUB1 gene (according to the transcript NM_005861.4), and the c.322dupG (p.Glu108Glyfs*4) variant was a novel variant. Pedigree verification revealed the 2 variants were respectively inherited from the proband′s healthy parents. A total of 12 foreign literatures reported 32 autosomal recessive spinocerebellar ataxia type 16 patients. The main clinical manifestations were ataxia, dysarthria and tendon hyperreflexia. Besides, nystagmus, spasticity, action tremors, and myoclonus can be present. Magnetic resonance imaging predominantly showed cerebellar atrophy. Conclusions The patient with autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant is rare in China. The main clinical manifestation is cerebellar ataxia, and brain imaging reveals remarkable cerebellar atrophy. Genetic testing is helpful for definite diagnosis.

    STUB1基因基因变异常染色体隐性脊髓小脑共济失调16型

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    成人刀砍样线状硬皮病伴癫痫发作及类Coats样表现1例并文献复习

    盛西西朱旭贞贺忠延薛丹...
    273-282页
    查看更多>>摘要：目的 通过报道1例刀砍样线状硬皮病患者的临床特点及诊治经过，并进行相关文献回顾，旨在为刀砍样线状硬皮病的早期诊断及治疗提供依据。 方法 总结2022年9月22日就诊于杭州市中医院的1例刀砍样线状硬皮病患者的临床资料和诊治过程，同时系统性分析国内外与刀砍样线状硬皮病伴癫痫发作或类Coats样表现相关的病例报道或病例系列研究，总结该类型患者的性别、年龄、发病时间、临床表现、治疗及预后等情况。 结果 本例患者为22岁女性，有头皮斑片样脱发和同侧额部刀砍样皮损病史10余年，5年前因右眼视力下降诊断为Coats病，现已失明。本次因“发作性意识丧失2 h余”就诊。患者入院时伴有癫痫样发作及左眼类Coats样表现，接受抗癫痫药物、糖皮质激素、免疫抑制剂治疗，效果尚可。分析国内外文献报道的全部20例刀砍样线状硬皮病患者的临床资料，其发病年龄为11.00（6.75，20.50）岁，男女比例为1∶1，刀砍样线状硬皮病伴癫痫发作患者的影像学结果多表现为病灶侧颅内多发钙化灶、病灶侧软组织萎缩、颅骨变薄。刀砍样线状硬皮病伴Coats样表现患者眼底及荧光素血管造影检查主要表现为渗出性炎症、视网膜脱离，其中1例患者的头颅影像学提示脑血管炎。对刀砍样线状硬皮病伴癫痫发作患者多予抗癫痫药物、激素联合免疫抑制剂、白细胞介素6抑制剂托珠单抗等药物治疗，也有患者予手术治疗。刀砍样线状硬皮病伴类Coats样表现患者多予玻璃体内贝伐珠单抗治疗，同时联合激素及免疫抑制剂治疗或视网膜靶向光凝治疗或局部激光和曲安奈德治疗。上述治疗可以有效控制患者的难治性癫痫，改善患者的视力下降。 结论 刀砍样线状硬皮病主要表现为眼睑以上额面部刀砍样皮损伴色素沉着，可伴有眼部类Coats样表现、癫痫发作及颅内影像学异常，上述临床特征可先后出现，也可同时出现，严重时可导致失明及难治性癫痫。应尽早予激素联合免疫抑制剂治疗，玻璃体内贝伐单抗治疗可以改善患者的视力下降。 Objective To report the clinical characteristics, diagnosis and treatment of a patient with linear scleroderma en coup de sabre (LSCS), and review the relevant literature in order to provide the basis for early diagnosis and timely treatment of the disease. Methods The clinical data and treatment process of a patient with LSCS admitted to Hangzhou Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical University on September 22, 2022 were summarized, and the case reports or case series studies related to LSCS with epilepsy or Coats-like response at home and abroad were systematically analyzed. The gender, age, onset time, clinical manifestations, treatment and prognosis of this type of patients were summarized. Results The patient is a 22 years old female with a history of scalp patchy alopecia and ipsilofrontal en coup de sabre for over 10 years and was diagnosed as Coasts disease due to decreased vision in the right eye 5 years ago, and now she is blind. This visit was due to "episodic loss of consciousness for more than 2 hours" with epileptic seizures and Coats-like response of the left eye. Treatment with antiepileptic drugs, glucocorticoids and immunosuppressants showed satisfactory results. The clinical data of all 20 patients with LSCS reported in domestic and foreign literature were analyzed. The age of onset was 11.00 (6.75, 20.50) years, with a male to female ratio of 1∶1. The imaging findings of patients with LSCS with epilepsy were mainly manifested as multiple brain calcifications, soft tissue atrophy and skull thinning on the focal side. The results of fundus examination and fundus fluorescein angiography in patients with LSCS with Coats-like response were mainly exudative inflammation and retinal detachment, including 1 case with cerebral cerebrovascular inflammation. In terms of treatment, most of the patients with LSCS with epilepsy were treated with antiepileptic drugs, glucocorticoids combined with immunosuppressant, interleukin-6 inhibitor tozizumab, and the other 2 cases were treated with surgery. Patients with LSCS with Coats-like response were treated with intravitreal bevacizumab in combination with glucocorticoids and immunosuppressive therapy or retinal targeted photocoagulation or local laser therapy with triamcinolone. The above treatment can control the patient′s refractory epilepsy and improve the vision loss. Conclusions The main manifestations of LSCS are en coup de sabre lesion with pigmentation on the forehead above the eyelid, accompanied by Coats-like response of the eye, epilepsy, and brain imaging abnormalities. The above clinical features may appear successively or simultaneously. In some patients, these symptoms may progress slowly, and can lead to blindness and refractory epilepsy severely. Glucocorticoids combined with immunosuppressive therapy should be given as early as possible, and intravitreal bevacizumab therapy can improve visual loss of LSCS patients.

    硬皮病,局限性癫痫视网膜毛细管扩张神经影像学

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    DNAJB2基因c.91C>T突变相关的远端遗传性运动神经病和早发型帕金森病一家系

    苏羽刘玲春杨瑞晗张明智...
    283-289页
    查看更多>>摘要：报道1个携带DNAJB2基因c.91C>T（p.His31Tyr）纯合变异的远端遗传性运动神经病（dHMN）合并早发型帕金森病的家系。先证者病程早期表现为远端肢体无力、萎缩，10余年后出现了帕金森症状，神经电生理检查提示存在运动及感觉神经轴索受累的表现。该突变位点尚未被报道，排除其他可引起早发型帕金森病的突变，考虑为dHMN的新发致病突变。 A family carrying a homozygous variant of DNAJB2 gene C.91C>T (p.His31Tyr) with distal hereditary motor neuropathy (dHMN) associated with early-onset Parkinson′s disease was reported. The patient presented with distal limb weakness and atrophy at the early stage of the disease, and developed Parkinson′s symptoms more than 10 years later. Neuroelectrophysiological examination suggested motor and sensory axonal involvement. This mutation site had not been reported and was considered to be a neogenic mutagenicity of dHMN, excluding other mutations that can cause early-onset Parkinson′s disease.

    遗传性运动感觉神经病夏科-马里-图斯病肌萎缩,脊髓性帕金森病DNAJB2基因

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