电生理检测在多系统萎缩与帕金森病诊断及鉴别诊断中的研究进展

正多系统萎缩(multiple system atrophy,MSA)是成年期隐匿起病、散发的、快速进展的累及神经系统多个功能解剖部位的变性疾病,以中老年居多。其临床表现按运动症候主要分2个类型:(1)以帕金森样症候为主要表现的MSA-P型;(2)以小脑共济失调为主要表现的MSA-C型。实际上很多MSA患者以非运动症候首发,如尿便障碍、性功能障     

多系统萎缩老年患者早期临床特点分析

目的 探讨多系统萎缩(MSA)的早期的临床表现及发病特点,为早期诊断提供依据.方法 回顾性分析我院102例诊断“很可能”的MSA老年患者首发症状、临床特点及辅助检查等,结合文献进行复习. 结果 102例诊断为“很可能”的MSA老年患者,其中诊断为MSA-P亚型57例(55.9％),MSA-C亚型45例(44.1％).首发症状以自主神经功能障碍27例,在MSA-P亚型与MSA-C亚型中分别为15例(26.3％)和12例(26.6％),主要表现为排尿、排便障碍14例,直立性低血压11例,性功能障碍8例.首发症状以帕金森样症状49例,主要表现为步态异常24例,静止性震颤3例,肌强直16例,动作迟缓15例.首发症状以小脑症状33例,主要表现为步态、肢体共济失调27例,构音障碍6例,眼球震颤2例.首发锥体束征2例.早期发生误诊36例(35.3％). 结论 MSA早期表现多样,容易被误诊.注意临床表现和辅助检查,提高临床早期诊断的准确性.     

直立性低血压对不同亚型多系统萎缩患者认知功能的影响

目的 探讨直立性低血压对不同亚型多系统萎缩(MSA)患者认知功能的影响。方法 评估MSA患者两种亚型及每种亚型患者伴或不伴直立性低血压(OH)的认知障碍特点。研究纳入神经内科的43例MSA患者。收集患者临床数据、运动及非运动症状量表评估，予以全面性精神认知量表测评，同时将认知水平细分为7个认知域。结果 MSA小脑型(MSA-C)和帕金森病型(MSA-P)两组临床数据、认知水平和认知域得分方面均未见明显差异(P>0.05)。而在MSA-C中按伴或不伴OH分组后，发现MSA-C-OH组蒙特利尔认知功能评估(MoCA)量表分数明显更低(P<0.045),相比MSA-C-OH(-)组，MSA-C-OH组在语言和相似性方面的得分显著下降(P<0.05)。该现象在MSA-P患者中并没有被发现。结论 MSA患者可伴有认知障碍，这可能与OH的严重程度相关，MSA-C患者中，OH对认知障碍的影响更凸显，可能是一个风险因素，而MSA-C-OH患者主要损害在语言和相似性能力方面，提示OH可能参与了MSA-C患者额叶皮层的损害，从而加剧了额叶相关认知障碍的发生发展。     

多系统萎缩的影像研究现状与展望

多系统萎缩(MSA)是以不同程度的帕金森综合征、小脑性共济失调、自主神经功能障碍和锥体束损伤的重叠组合为特征[1]。在神经解剖上发现,神经系统多部位异常的α突触核蛋白沉积,累及多系统和(或)器官。MSA多见于中老年人,随着我国老龄化速度逐年加快,MSA患病率日渐增多,根据Gilman等[2]2008年修订的诊断标准,MSA按运动症候分为2型:以帕金森样症候为主型(MSA-P型)和以小脑性共济失调为主型(MSA-C型)。MSA-P型因肌张力增高,导致强直少动、运动迟缓等症候,易被误诊为帕金森病(PD)、进行性核上性麻痹(PSP);以共济运动失调为主要表现的MSA-C型易与脊髓小脑性共济失调相混淆。     

帕金森病睡眠障碍与非运动症状的相关性研究

目的探讨帕金森病(PD)患者睡眠障碍与非运动症状的相关性。方法 535例PD患者先用匹兹堡睡眠质量指数评测,并分为睡眠障碍组249例和非睡眠障碍组286例。分别用一般情况调查表、统一帕金森病评定量表(UPDRS)、Hoehn-Yahr分级、汉密尔顿抑郁量表(HMDS)、疲劳严重度量表和简易智能状态检查量表(MMSE)等对患者进行评分。结果睡眠障碍组较非睡眠障碍组更易出现便秘(67.5%vs 48.3%)、疲劳(79.1%vs 44.4%)、嗅觉减退(35.7%vs 23.8%)、排尿障碍(50.6%vs 11.5%)、头晕(45.4%vs 26.9%)等症状(P<0.01);睡眠障碍组各量表评分高于非睡眠障碍组[HMDS评分(16.96±10.57)分vs(9.77±7.55)分、UPDRS-Ⅰ(2.59±2.05)分vs(1.56±1.47)分、UPDRS-Ⅱ(11.27±5.81)分vs(8.63±4.51)分、UPDRS-Ⅲ(23.30±12.87)分vs(19.02±11.37)分、UPDRS总分(42.35±20.80)分vs(32.83±17.33)分,P<0.01]。2组患者Hoehn-Yahr分级、MMSE评分比较无显著差异,且其他非运动症状比较无显著性差异(P>0.05)。多元logistic回归分析显示,便秘、疲劳、抑郁、排尿障碍、头晕、UPDRS-Ⅲ是PD患者伴发睡眠障碍的危险因素(P<0.05,P<0.01)。结论睡眠障碍是PD患者常见的非运动症状,其与便秘、疲劳、抑郁、排尿障碍、头晕等非运动症状显著相关。     

多系统萎缩患者的认知功能障碍

多系统萎缩(multiple system atrophy,MSA)是一种散发进行性神经系统多部位受累的变性疾病.临床主要表现为帕金森样症候、小脑性共济失调、锥体束征和自主神经系统障碍等.少突胶质细胞内包涵体是该病的特征性病理学标志物,主要成分是一种高度磷酸化的α-突触核蛋白[1].根据最新标准将其分为以帕金森样症状为主,且对多巴胺反应欠佳的MSA-P型,以及以小脑性共济失调为主要表现的MSA-C型.既往认为MSA患者不存在认知功能障碍,且在2008年MSA诊断专家共识中,将其作为排除标准之一[2].     

帕金森病非运动症状的临床分析

目的通过对帕金森病患者非运动症状发生率进行分析,探讨非运动症状的临床特征。方法采用"帕金森病非运动症状筛查量表"对146例帕金森病患者的非运动症状发生率进行排序,并结合临床类型、Hoehn-Yahr分期等因素对非运动症状进行分析。结果帕金森病非运动症状的总发生率为98.6%,其中便秘的发生率最高为82.9%,其次为睡眠障碍(66.4%)、小便障碍(63.7%)、记忆困难(57.5%)、性生活障碍(50.7%)等。非运动症状发生率随Hoehn-Yahr分期的增加而增加,差异有统计学意义(P0.01)。结论自主神经功能障碍是帕金森病最常见的非运动症状。Hoehn-Yahr分期与非运动症状发生率明显相关。     

帕金森病相关性睡眠障碍的研究进展

帕金森病(Parkinson disease,PD)是一种常见的神经系统变性疾病,临床表现可分为运动症状与非运动症状两大类。其中,PD非运动症状在病程早期极易被误诊、漏诊,如有些PD相关性睡眠障碍甚至是患者先驱症状。进一步研究PD相关性睡眠障碍的发病机制有助于预防性延缓PD疾病进展。基于此,本文主要综述PD相关性睡眠障碍的临床分类、可能的发病机制及治疗方案等,为PD治疗提供新的治疗思路。     

胃食管反流病患者夜间反流与睡眠障碍情况调查

目的 研究胃食管反流病(GERD)患者夜间反流症状、睡眠障碍的发生率及相互关系.方法 全国51个城市的125家医院对7520例门诊GERD患者进行问卷调查.获得有效问卷7515份,男、女比例为1.36∶1.调查项目包括:GERD症状、夜间反流症状发生率、睡眠障碍的表现及夜间反流与睡眠障碍的关系.结果 GERD主要症状为烧心(88.3%)、反流(72.2%)、胸痛(37.6%)、上腹痛(35.5%)、咽部不适(30.4%)、咳嗽(12.1%)及哮喘(3.0%).7515例患者中,有夜间症状者4216例(56.1%),经内镜证实的糜烂性食管炎(EE)及非糜烂性胃食管反流病(NERD)患者夜间反流症状发生率分别为56.1%及53.1%,两者间差异无统计学意义(P＞0.05).有夜间反流症状者80.1%存在睡眠障碍,明显高于无夜间反流症状者的25.8%(P＜0.01).在睡眠障碍中,以睡眠质量下降和日间残留效应为多(分别为78.2%和70.1%),有夜间反流症状者,睡眠障碍病程发生在反流症状之后的占58.7%,明显高于发生在反流症状之前的21.5%(P＜0.01).有夜间反流的EE及NERD患者的睡眠障碍发生率分别为80.0%及77.1%,两者间差异无统计学意义(P＞0.05).在治疗GERD伴睡眠障碍方案中以质子泵抑制剂治疗为主(53.8%),其次为安眠药(24.5%),联合用药(9.5%).结论 GERD患者常有夜间反流症状及睡眠障碍,夜间反流可能是患者睡眠障碍的原因,治疗中应合并使用质子泵抑制剂.     

帕金森病患者疲劳与睡眠障碍的相关性研究

目的探讨帕金森病(PD)患者疲劳是否与睡眠障碍有相关性。方法应用疲劳严重度量表(FSS)测评120例PD患者的疲劳症状,并将其分为疲劳组(57例)和非疲劳组(63例)。使用匹兹堡睡眠质量指数量表(PSQI)评价患者睡眠情况。比较疲劳组与非疲劳组患者睡眠障碍及各亚型间疲劳和睡眠的差异。结果 47.5%的患者存在疲劳。疲劳组与非疲劳组比较,年龄、性别、起病年龄、病程、简易智能状态检查量表评分均无显著差异(P>0.05)。PQSI评分疲劳组高于非疲劳组[(7.26±3.79)分vs(4.71±3.21)分],差异有统计学意义(P=0.000)。2组入睡时间及夜间睡眠障碍评分比较差异无统计学意义(P>0.05)。疲劳组昼间思睡评分显著高于非疲劳组[(2.87±1.30)分vs(1.49±1.00)分],差异有统计学意义(P=0.000)。Spearman相关分析显示2组患者FSS和PSQI评分具有相关性(r=0.401,P<0.05)。PD患者各亚型间疲劳发生率及睡眠障碍等比较差异无统计学意义(P>0.05)。结论疲劳和睡眠障碍均是PD患者的独立非运动症状。PD疲劳与睡眠障碍具有相关性。     

Clinical and polysomnographic features of patients with multiple system atrophy in Southwest China

Purpose

The association between clinical features and polysomnographic variables of Chinese patients with multiple-system atrophy (MSA) remains largely unknown.

Methods

This study assessed 30 patients with MSA from Southwest China using the Unified Multiple-System Atrophy Rating Scale (UMSARS). Each patient also underwent video-polysomnography. Twenty age and gender matched healthy volunteers were performed video-polysomnography as control group.

Results

Of the 30 patients, 23 (76.7 %) were classified as having MSA-C and seven (23.3 %) were diagnosed with MSA-P. The mean age of the patients at disease onset was 53.2?±?8.5 years, and the mean duration of their disease was 3.6?±?2.8 years. Twenty-one patients complained of sleep disorders. The mean scores of UMSARS-I, UMSARS-II, and UMSARS-IV of patients with MSA-P were significantly higher than those of patients with MSA-C. Polysomnography revealed that 29 patients had sleep architecture alteration. A longer duration of stage N1 sleep, a shorter REM sleep, as well as decreased sleep efficiency and total sleep time (TST) were detected. Twenty-one patients had obstructive sleep apnea. Patients with MSA-C demonstrated longer sleep onset latencies compared with patients with MSA-P. TST was negatively correlated with MSA duration, whereas sleep latency was positively correlated with MSA duration. Moreover, TST, and mean SaO₂ were negatively correlated with motor disability.

Conclusions

Various sleep disorders are common in Chinese MSA patients. Sleep architecture and sleep-associated breathing disorders are predominant polysomnographic findings. Sleep quantity was reduced with disease progression.     

Effectiveness of Levodopa in Patients with Multiple System Atrophy and Associated Clinicopathological Features

Objective To determine the clinicopathological features of levodopa or dopamine agonist (DA) responders with multiple system atrophy (MSA), an autopsy-confirmed diagnosis is vital due to concomitant cases of MSA and Parkinson''s disease (PD). We therefore aimed to investigate the effectiveness of levodopa and DA in autopsy cases of MSA without PD and thereby clarify the clinical course, magnetic resonance imaging (MRI) findings, and pathological features of levodopa-responsive MSA cases. Methods The medical records (clinical data, MRI findings, and pathological findings) of 12 patients with MSA were obtained, and the patients were pathologically confirmed to not have PD. The clinical diagnoses of the patients were MSA with predominant parkinsonism (MSA-P) (n=7), MSA with predominant cerebellar ataxia (MSA-C) (n=4), and progressive supranuclear palsy (PSP) with a concomitant pathology of MSA (n=1). Results Nine patients received a maximum dose of 300-900 mg of levodopa as treatment, which was effective in two MSA-P patients and mildly effective in another two MSA-P patients. DA was mildly effective in one MSA-C patient. The levodopa responders showed marked autonomic dysfunction relatively late and became bedridden after 10 years. Additionally, they exhibited bilateral hyperintense putaminal rims in MRIs after six and nine years, respectively, after disease onset. One levodopa responder and one DA mild responder showed relatively mild neurodegeneration of the putamen. Conclusion Levodopa responders, despite having MSA-P, may show a relatively slow progression in putaminal neurodegeneration, and might maintain prolonged daily life activities in cases without an early occurrence of autonomic dysfunction.     

A case of pure autonomic failure (PAF) with sleep apnea syndrome (SAS) and successful treatment of dysautonomia with nasal continuous positive airway pressure (CPAP)

A 72-year-old man was admitted to our hospital due to dysuria and frequent syncope. The patient had been well until the age of 70 years, when he began with these symptoms and neurogenic bladder was diagnosed in the other hospital. On admission, neurological examinations revealed no abnormal findings except blepharoptosis, anisocoria and orthostatic hypotension. Frequent apnea was evident during sleep. Autonomic function tests showed mainly sympathetic postganglionic dysfunction. Brain magnetic resonance imaging showed lacunar infarctions without cerebello-pontine atrophy or abnormal signals of the basal ganglia. We diagnosed pure autonomic failure (PAF) with sleep apnea syndrome (SAS). After starting nasal continuous positive airway pressure (CPAP) for SAS, his sneezing and sleep apnea drastically improved. Interestingly, CPAP also decreased the severity of orthostatic hypotension and syncope. Ambulatory blood pressure monitoring (ABPM) showed remarkable improvement in diurnal fluctuation of blood pressure after CPAP therapy. Although SAS is frequently associated with Shy-Drager syndrome but not with PAF, patients with PAF had been reported to have degenerative changes in the central nervous system overlapping with Shy-Drager syndrome or Lewy body disease. This case raised the possibility that nasal CPAP may be useful for orthostatic hypotension as well as SAS in neurodegenerative diseases.     

Isolated autonomic cardiovascular neuropathy in a patient with primary Sjögren syndrome: a case of successful treatment with glucocorticoid

Autonomic failure is rare in patients with Sj?gren syndrome (SS). We report the case of a 46-year-old woman with severe autonomic cardiovascular failure, manifested by incapacitating postural hypotension, as the first symptom of primary SS. Treatment with glucocorticoid resulted in a dramatic improvement of her symptoms and objective findings of autonomic cardiovascular dysfunction. We suggest that SS should be considered in patients with idiopathic autonomic cardiovascular neuropathy, especially in those with idiopathic orthostatic hypotension. Furthermore, glucocorticoid therapy seems to be very efficacious in the treatment of SS-associated autonomic cardiovascular neuropathy.     

2011年第1期英文目录

睡眠行为异常（RBD）的特征是快速眼动（REM）睡眠期骨骼肌弛缓现象消失,并出现突出的运动行为,导致睡眠中断和自身或床伴的伤害。RBD与神经系统变性病有密切关联。RBD的症状常在神经系统变性病的其他症状数年之前出现,被认为可能是神经系统变性病发展过程中的某个阶段。对原发性RBD的纵向研究能充分了解其自然病程,将能增加对神经系统变性病的机制、诊断及治疗的认识。     

Association of the carotid sinus syndrome and orthostatic hypotension. Another potential cause of the failure of VVI electrostimulation

The systolic blood pressure was measured during clinostatism and 15', 1', 5' after standing in 101 patients with carotid sinus syndrome and in 101 controls matched for age, sex, and prevalence of organic heart disease. In the carotid sinus syndrome group we observed a greater systolic blood pressure reduction from the supine to standing position (20 +/- 19 vs 14 +/- 11 mmHg), a lower orthostatic pressure (111 +/- 23 vs 120 +/- 21 mmHg) and a greater incidence of orthostatic hypotension (defined as a blood pressure reduction greater than or equal to 50 mmHg or greater than or equal to 20 mmHg when orthostatic pressure was lower than 100 mmHg) (35% vs 17%). Twenty-three carotid sinus syndrome patients received a VVI pacemaker for control of their symptoms; after a mean follow-up of 12.2 +/- 7.7 months, unchanged or reduced symptoms persisted in 6 out 9 (67%) patients with previous orthostatic hypotension while only in 1 out of 14 (7%) patients without this feature. In conclusion, orthostatic hypotension is frequently associated with a carotid sinus syndrome and may account for relapses in some patients treated with VVI pacing.     

Evaluating dysfunction of the autonomic nervous system

Simple bedside measurements of blood pressure and systolic pressure response to the Valsalva maneuver will confirm a clinical impression of orthostatic hypotension. Careful questioning of the patient usually elicits other symptoms of autonomic nervous system dysfunction, such as impotence, urinary and fecal incontinence, constipation or diarrhea, blurred vision, or sweating changes. Drugs are the most common cause of autonomic dysfunction, and their benefits should be weighed against the severity of the dysfunction. In addition, diabetes mellitus, uremia, amyloidosis, acute intermittent porphyria, myeloma, tabes dorsalis, and alcohol-nutritional problems may produce symptoms of autonomic dysfunction. Thus, patients who present with autonomic features but no history of dysfunction-producing drugs should undergo complete laboratory evaluation. A regimen of tyramine or L-dopa or a diet rich in cheese, processed meats, and wine (a monoamine), coupled with a monoamine oxidase inhibitor have beneficial effects in patients with orthostatic hypotension due to preganglionic autonomic dysfunction. Patients who do not respond to catecholamine precursors have stable, isolated orthostatic hypotension or a polyneuropathy such as that caused by diabetes.     

Gastrointestinal motility disturbances in patients with orthostatic hypotension

Orthostatic hypotension syndromes may be associated with visceral denervation, resulting in disturbances of the gastrointestinal and urinary systems. This report analyzes the findings in 9 patients with neurogenic orthostatic hypotension and gastrointestinal symptoms. Antral and proximal small intestinal motor dysfunction was demonstrated in all patients: a significant reduction (p = 0.007) in the number of interdigestive motor complexes during 3 h of fasting (mean 0.4 vs. 1.3 controls); absence of gastric component in interdigestive motor complexes observed; incoordination of fasting and fed antral activity; and development of nonpropagating bursts of phase III-like activity in the intestine that were of at least 2-min duration, high amplitude and frequency, and associated with tonic elevations in baseline pressure. These motor abnormalities may provide a potential means for the diagnosis of impaired autonomic supply to the upper gut.     

Orthostatic hypotension in elderly women with congestive heart failure

Orthostatic hypotension is common in the elderly and could be the cause of impaired vision, dizziness, fainting spells and falls. To date, studies on orthostatic hypotension have chiefly concentrated on elderly patients in nursing homes, outpatients or healthy subjects. Congestive heart failure (CHF) is one of the most common causes of hospitalization and pharmacotherapy in the elderly, but little is known about the orthostatic hypotension in patients with CHF. The aim of this study was to evaluate the prevalence of orthostatic hypotension and associated symptoms in elderly females hospitalized for CHF. The study group included 36 women aged 70-100 years (mean 82.2), admitted to hospital for congestive heart failure. The control group consisted of 15 women aged 71-95 years (mean 82.5) with no symptoms of heart failure or other diseases, who underwent earlier epidemiological studies on Cracow's elderly population. In all subjects a tilt test was performed (60 degree tilt for 10 minutes) under standardized conditions (fasting patients, 12 hours after the last administration of medications, between 8:00 and 10:00 a.m.). Orthostatic hypotension was defined as a decline of 20 mmHg or more in systolic blood pressure, or 10 mmHg or more in diastolic blood pressure on assumption of the upright position. Orthostatic hypotension was detected in 83.3% of CHF women, and 43.3% of them manifested clinical symptoms associated with it. In the control group, orthostatic hypotension was noted in 53.3% of women, but none was symptomatic. In particular, the CHF patients showed a decreased ability to develop compensatory tachycardia during hypotension. Moreover, reduction in systolic blood pressure was more pronounced in CHF patients, and diastolic blood pressure increase was less significant as compared with the control group.