脑深部电刺激治疗运动障碍病276例病例分析

目的 分析276例运动障碍病(MD)的脑深部电刺激(DBS)治疗效果和经验.方法 276例MD患者接受421侧DBS植入手术治疗.其中含帕金森病(PD)232例,原发性震颤(ET)7例,肌张力障碍(DT)25例,抽动秽语综合征(TS)5例,Meige综合征等其他病例7例.结果 PD患者UPDRS运动功能评分(关状态)平均改善率45.6%.手术后非运动症状(NMS)出现频数明显下降的是:疼痛、感觉异常、失眠、多梦、不安腿、体质量下降.ET患者双上肢震颤完全停止(单侧DBS手术者除外).DT患者BFM改善率22.0%～95.8%,个体间差异较大.TS患者YGTSS综合评分改善率43.2%.强迫症状明显减轻.结论 DBS是有肯定疗效的MD治疗手段,但许多问题值得探讨.DBS可以使PD患者一部分NMS症状和TS患者强迫症状得到改善,对于情感障碍的治疗有借鉴意义.DBS对于原发性DT有较好的疗效,但对于继发性和不同分布特点的DT,缺乏预实验确定手术适应证,也没有对照研究确定最佳DBS靶点.     

A case of abdominal functional myoclonus analyzed by movement related cortical potentials

BackgroundDiagnosis of functional (psychogenic) movement disorders is challenging, causing concern for many clinicians. Here, we describe a case in which MRCP (movement related cortical potentials) was useful for understanding pathophysiology.Case reportThe patient was a 16-year-old male with history of glycogenosis and Crohn’s disease. He also had a history of possible autism spectrum disorder and psychogenic gait disturbance at age 12. On admission, persistent abdominal jerk had appeared. Abdominal jerks presented like hiccups, appearing once every few seconds and reducing in amplitude and frequency with distraction. Surface electromyogram with EEG excluded epileptic spasms. MRCP, with rectus abdominis muscle contractions set as a trigger, showed slowly rising negative waves (Bereitschaftspotentials, BP) from 0.6 s prior to the trigger. The presence of BP suggests that the abnormal movement emerges through a voluntary motor pathway.We comprehensively diagnosed his involuntary jerks as functional abdominal myoclonus.DiscussionIn a voluntary movement, after the drive to move from frontal and limbic regions, MRCP shows slow negative waves originating from pre-Supplementary Motor Area (SMA) and SMA, as BP, before real muscle contraction. The sense of agency is also simultaneously generated in this process by the collaborative work of the frontal and parietal lobes. Even though this abnormal movement goes through the voluntary motor pathway, the patient may not be aware of voluntariness due to lack of sense of agency.ConclusionMRCP is still challenging, but useful for the diagnosis of functional (psychogenic) movement disorders.     

Family interventions in schizophrenia and related disorders: a critical review of clinical trials

OBJECTIVE: To update evidence from studies on family intervention in schizophrenia looking carefully at methodological issues. METHOD: Twenty-five studies were reviewed, using specific outcome criteria, and computing effect sizes whenever possible. RESULTS: Effect on relapse is relatively well assessed, although differences emerged particularly in comparison with poor control treatments and disappeared in recent studies. Findings on patient's symptoms, social functioning or family variables are limited and affected by methodological pitfalls. No difference between intervention models emerged, although behavioural/psycho-educational approaches were better investigated. Patients' inclusion, greater frequency and length of treatment led to better results. The main flaws were: poor control of standard treatment, small sample sizes, failure in evaluating clinical significance in continuous outcome variables. CONCLUSION: It remains unclear whether the effect depends on family treatment or on more intensive care. The failure to relate outcome to family-mediating variables is a challenge to the rationale underlying family interventions.     

加速度记录仪定量化评价运动障碍性疾病

目的 利用不同方法解析加速度记录仪记录的身体活动,定量化评价神经科不同疾病所致运动障碍的程度.方法 81例帕金森病(Parkinson’sdisease,PD)患者以及61例伴有上肢功能障碍的急性脑梗死(acute cerebral infarction,ACI)患者,根据PD与ACI国际治疗指南常规治疗,于治疗前与治疗后(PD患者24～38 d后,脑梗死患者约28 d后)分别将加速度记录仪佩戴于同一例患者利手侧手腕连续记录6d.同时利用统一PD评分量表(UPDRS)评价治疗前后PD患者的临床评分,应用Fugl-Meyer量表(FMA)和功能独立性评定量表(FIM)评价ACI患者上肢运动功能和进食、梳洗、穿脱上衣等功能;解析加速度记录仪记录的身体活动数据,用幂型自相关指数(power-law exponent,PLE)以及去趋势波动分析指数(detrended fluctuation analysis,DFA)分别评价PD患者与ACI患者用药前后的指数变化,并分析各组患者的临床量表评分与PLE和DFA的相关性.结果 与用药前比较治疗后PD患者的UPDRS总分与UPDRS运动障碍部分(UPDRSⅢ)评分以及PLE指数均显著改善(UPDRS总分:32.8±16.2、28.8±14.7,Z=2.080,P=0.038;UPDRSⅢ:18.6±8.2、15.7±6.8,Z=2.155,P=0.031;PLE:0.98±0.25、0.82±0.21;Z=2.212,P=0.027),PLE指数的改善率与UPDRS总分、UPDRSⅢ评分的改善率呈直线相关(r=0.699、0.823,均P＜0.05);ACI患者FMA评分、FIM评分以及DFA指数较治疗前显著改善(FMA:12.39±8.21、30.28±7.29,Z=3.016,P=0.004;FIM:8.98±7.29、13.21±7.6,Z=2.282,P=0.038; DFA:0.86±0.31、0.98 ±0.27,Z=2.360,P=0.036),DFA指数与ACI患者的FMA、FIM评分的改善率呈直线相关(r=0.638、0.712,均P＜0.05);PLE指数与ACI的临床量表评分、DFA指数与PD的临床量表评分无相关性.结论 解析加速度记录仪所记录的身体活动的PLE指数可能能够定量化评价肢体僵硬、运动迟缓类型运动障碍的程度,而DFA则可能对肢体瘫痪或无力类型运动障碍的评价有较高的特异性,利用针对性的分析方法解析加速度记录仪记录的身体活动可作为运动障碍性疾病患者使用的定量化评价工具.     

The biological origin of mild mental retardation. A critical review

The prevailing theory that normal intelligence and mild mental retardation are determined by multiple additive genes is critically reviewed in the light of findings from recent population studies. Discrepancies between theoretical concepts and reported data are noted, particularly those concerning frequency of mild mental retardation, sex ratio, and additional somatic and psychiatric handicaps in populations with mild mental retardation.     

GABA-Transaminase in brain and blood platelets: Basic and clinical aspects

1. 1. Several lines of evidence suggest that the major inhibitory neuro-transmitter, gamma-aminobutyric acid (GABA) is involved, both directly and indirectly, in the pathogensis of certain neurological and psychiatric disorders.

2. 2. The main enzyme responsible for GABA catabolism is gamma-aminobutyrate aminotransferase (GABA-T). Inhibition of this enzyme produces a considerable elevation of brain GABA concentrations, and such elevation has been correlated with many pharmacological effects.

3. 3. There seems to be that, as is discussed below, GABA-T activity in the brain and/or blood platelets is related to some neuro-psychiatric disorders such as alcoholism, epilepsy and Alzheimer's disease.

4. 4. GABA-T has been identified in the blood platelets with similar characteristics to those of brain GABA-T. In this way, studies on GABA-T activity in neuro-psychiatric disorders could be performed to understand, diagnosis and treat GABA-related disorders of the central nervous system (CNS).

Age, sex and mental retardation related changes of brainstem auditory evoked potentials in Down's syndrome

Brainstem auditory evoked potentials (BAEPs) were recorded in 51 Down's syndrome (DS) subjects and compared with those of 38 normal controls; the correlations between the BAEP measures and age, sex, and degree of mental retardation were then evaluated. The DS patients showed a significant reduction in wave V latency and amplitude and in I–III, III–V, and I–V interpeak intervals. An age-related shortening of the I–V interpeak interval found in DS patients was interpreted as being a result of changes in central inhibitory/excitatory mechanisms. In both groups, female subjects presented an I–V interval shorter than that of males but this difference was greater in the DS subjects than in the normal population. The DS patients with severe mental retardation showed significantly longer I–V interpeak intervals than those with moderate retardation; this could be due to the presence of additional central nervous system abnormalities.

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Sommario I potenziali evocati auditivi tronco-encefalici (BAEP), registrati in 51 pazienti con sindrome di Down (SD), sono stati messi a confronto con quelli ottenuti in 38 soggetti normali di controllo. In seguito è stata valutata la correlazione tra i parametri dei BAEP con l'età, il sesso e il grado di ritardo mentale. I pazienti con SD mostravano una riduzione significativa della latenza e dell'ampiezza dell'onda V e della lunghezza dell'intervallo I–V, rispetto ai controlli. Una ulteriore riduzione età correlata dell'intervallo I–V è stata osservata nei pazienti con SD; questa è stata interpretata come il risultato di modificazioni dei meccanismi inibitori/eccitatori centrali. Le femmine con SD presentavano un intervallo I–V più breve di quello dei maschi in maniera più evidente che nella popolazione normale. Inoltre, i pazienti con ritardo mentale più grave mostravano un intervallo I–V significativamente più prolungato di quelli con ritardo mentale medio; questo potrebbe essere dovuto alla presenza di anomalie strutturali aggiuntive nei soggetti più compromessi.

     

When the brain expects pain: common neural responses to pain anticipation are related to clinical pain and distress in fibromyalgia and osteoarthritis

Supraspinal processes in humans can have a top‐down enhancing effect on nociceptive processing in the brain and spinal cord. Studies have begun to suggest that such influences occur in conditions such as fibromyalgia (FM), but it is not clear whether this is unique to FM pain or common to other forms of chronic pain, such as that associated with osteoarthritis (OA). We assessed top‐down processes by measuring anticipation‐evoked potentials and their estimated sources, just prior (< 500 ms) to laser heat pain stimulation, in 16 patients with FM, 16 patients with OA and 15 healthy participants, by using whole‐brain statistical parametric mapping. Clinical pain and psychological coping factors (pain catastrophizing, anxiety, and depression) were well matched between the patient groups, such that these did not confound our comparisons between FM and OA patients. For the same level of heat pain, insula activity was significantly higher in FM patients than in the other two groups during anticipation, and correlated with the intensity and extent of reported clinical pain. However, the same anticipatory insula activity also correlated with OA pain, and with the number of tender points across the two patient groups, suggesting common central mechanisms of tenderness. Activation in the dorsolateral prefrontal cortex was reduced during anticipation in both patient groups, and was related to less effective psychological coping. Our findings suggest common neural correlates of pain and tenderness in FM and OA that are enhanced in FM but not unique to this condition.     

Tripartite relationship among P300, clinical features and brain structure in neuroleptic-naive schizophrenia

Auditory P300 abnormalities in schizophrenia patients have been repeatedly reported by many studies. However, reported relationships among P300 abnormalities, clinical features and other biological variables, such as abnormalities in structural brain imaging, are notably discrepant. This is partially due to the inclusion of patients who have had long-term administration of neuroleptics and those from whom this treatment has been withdrawn. The present study measures event-related potentials in 13 neuroleptic-naive schizophrenia patients using an auditory oddball paradigm to clarify the relationships among P300 amplitude, clinical features and brain structure. All patients underwent computed tomography to estimate the area of the right and left frontal cortical sulci and Sylvian fissures. Clinical symptoms were assessed using the Positive And Negative Syndrome Scale. The high correlation coefficients were obtained between P300 amplitude and the anxiety/depression factor score (r = -0.77), the positive factor score (r = -0.58) and between P300 amplitude and the area ratios of the fronto-temporal region (r = -0.66). These findings show that fronto-temporal region and P300 amplitude are closely related to the earliest stage of illness even in neuroleptic-naive patients.     

The effects of striatal silent lacunar infarction on the substantia nigra and movement disorders in Parkinson's disease: A follow-up study

ObjectiveStriatal silent lacunar infarction (SSLI) is associated with structural changes to the substantia nigra (SN), detectable by diffusion kurtosis imaging (DKI). In this follow-up study, we investigated the effects of SSLI on the SN and movement disorders in patients with Parkinson's disease (PD).MethodsA total of 60 untreated patients with early-stage PD, divided into control and SSLI groups, were enrolled in this study. All participants underwent conventional MRI and DKI twice; at baseline and after a 1-year period. We analyzed the differences of the following variables between the two groups: mean kurtosis (MK) values of the SN, the severity of disease, daily dosage of levodopa, and the variation of these indexes from baseline to 1-year visit. Logistic regression analysis was used to identify the major risk factors for SSLI in PD patients.Results1. All variables showed significant differences between the two groups. 2. The variation in MK values of the SN had a positive correlation with the variation in the severity of disease. 3. Hypertension and hyperhomocysteinemia were independent factors for SSLI in patients with PD.ConclusionAs PD progresses, movement disorders become more prominent, with increased structural changes to the SN, especially in patients with SSLI. Furthermore, PD patients with hypertension and hyperhomocysteinemia are more likely to have SSLI.     

早中期帕金森病患者平衡功能、跌倒风险及步态分析

目的分析早中期帕金森病患者平衡功能、跌倒风险和步态,以为其康复治疗提供临床依据。方法共30例早中期帕金森病患者和15例性别、年龄、受教育程度相匹配的正常对照者采用Berg平衡量表(BBS)评价平衡功能,起立-行走计时测验(TUGT)、站起测验(CRT)和走直线步态测验(TGT)评价跌倒风险,步态分析系统分析步态。结果与对照组相比,帕金森病组患者BBS评分减少(P=0.001)、TUGT时间(P=0.003)和CRT时间(P=0.002)延长、TGT正确步数减少(P=0.041),以及10米步行试验之步长缩短(P=0.020)、步速减慢(P=0.038)、足尖着地比例增加(P=0.000)、摆动相左侧和右侧踝背屈角度减小(P=0.005,0.006)。结论早中期帕金森病患者平衡功能下降、跌倒风险和步态异常风险增加,应早期予康复治疗。     

A critical review of genetic studies of schizophrenia. I. Epidemiological and brain studies

Family, twin and adoption studies suggest that susceptibility to schizophrenia is based at least to some extent on genes. The results of these studies vary and depend greatly on the diagnostic criteria used. When a broad definition of schizophrenia is employed, even high degrees of heritability are observed. However, when more narrow criteria are employed, the degrees of heritability decrease. According to a large Finnish adoption study, the patient-family interaction has an even more important role in the origin of schizophrenia than purely genetic factors. Interaction between the genetic factors on the one hand and physical, psychological and psychosocial factors on the other hand is emphasized.     

帕金森病患者运动障碍和症状波动的影响因素

目的 观察帕金森病患者运动障碍和症状波动发生情况，探讨两者发生的影响因素。方法 对确诊的帕金森病患者进行随访，记录患者详细资料并进行UPDRS、H-Y分级、Schwab和英格兰日常生活量表评分，观察有无运动障碍和症状波动发生。对所得资料进行统计分析。结果 63例帕金森病患者均接受左旋多巴治疗，观察发现11例(17．5%)出现运动障碍，其中10例表现为肌张力障碍；36例(57．1％)出现症状波动，其中28例表现为剂末现象。左旋多巴平均日剂量(r=9．768，P=0．001)、UPDRS—off评分(r=0．076，P=0．008)与运动障碍呈正相关，左旋多巴治疗时间与症状波动呈正相关(r=0．738，P=0．002)，控释剂的使用与其呈负相关(r=-3．378，P=0．015)。结论 本组患者运动障碍的发生率较低，而症状波动的发生率与国外报道相近，左旋多巴平均日剂量和病情严重程度是运动障碍的主要影响因素，其治疗时间是症状波动的影响因素。运动综合征主要表现为剂末现象和肌张力障碍。     

帕金森病患者运动症状进展及运动并发症危险因素纵向分析

目的 观察帕金森病(Prkinson’s disease,PD)患者运动症状的进展及运动并发症的发生情况,探讨运动症状的进展速度及运动并发症发生的危险因素.方法 随访2007年在新华医院神经内科确诊的PD患者130例,随访时间为3年.采用统一PD评分量表(UPDRS)和H-Y分级评估及随访130例患者运动症状进展及运动并发症发生情况,统计并分析运动症状的进展速度及运动并发症发生的危险因素.结果 (1)PD患者H-Y分级平均年增长2.5％,UPDRSⅢ分数平均年增长3.1％;随访末患者吞咽困难发生率较基线增加23.0％;跌倒发生率增加16.7％;(2)异动症的独立危险因素为:随访末左旋多巴的剂量(OR=1.004,95％ CI 1.001 -1.006,P=0.008);症状波动的独立危险因素为:病程(OR=1.637,95％ CI l.083 -2.473,P=0.019),左旋多巴用药时间(OR =0.698,95％ CI0.494～0.987,P =0.042),入组时(OR=1.005,95％ CI 1.001～1.010,P=0.016)及随访末左旋多巴剂量( OR=1.014,95％ CI1.001～ 1.027,P =0.032).结论 随病程进展,PD患者的运动症状逐渐加重,吞咽困难和跌倒的发生率上升,运动并发症的发生率增加.左旋多巴的暴露总量是PD患者出现运动并发症的预测因素.     

伴快速眼球运动睡眠行为障碍的帕金森病患者临床特征

目的 评价快速眼球运动睡眠行为障碍(RBD)在帕金森病(PD)患者中的患病率以及伴发RBD的PD患者临床特征.方法 2007年连续入组124例PD患者,采用非运动症状问卷(NMSquest)第25项问答结果调查PD患者中RBD患病率;将入选患者分为RBD组(78例)和非RBD组(13例),采用统一PD评分量表(UPDRS)、Hoehn-Yahr(H-Y)分级比较2组运动症状严重程度和运动并发症发生情况;选用NMSquest量表比较2组非运动症状发生情况,选用MMSE、汉密尔顿抑郁量表(HAMD)、汉密尔顿焦虑量表(HAMA)、帕金森病睡眠量表(PDSS)和Epworth嗜睡量表(ESS)比较2组认知功能、焦虑和抑郁、夜间睡眠障碍和日间思睡程度.结果 (1)RBD的患病率为62.9%(78/124);(2)RBD组患者的病程[(3.8±2.8)年]显著短于非RBD组[(5.0±2.5)年,t=-1.972,P=0.048],但在性别、年龄、起病年龄、发病类型、左旋多巴等效剂量(LDE)和用药种类上2组差异没有统计学意义;(3)在运动症状中RBD与非RBD组在H-Y分级、UPDRS-Ⅱ、Ⅲ、Ⅳ评分以及运动并发症发生率方面差异无统计学意义;(4)在非运动症状中胃肠道功能、自主神经系统功能、精神和睡眠活动等方面的不良症状在RBD组的发生率显著高于非RBD组,但是认知、焦虑和抑郁、夜间睡眠障碍和日间思睡的严重程度在2组间差异没有统计学意义.结论 RBD在PD患者中的患病率较高,伴发RBD的PD患者病程较短且非运动系统受累更加广泛.     

Integrated brain activity in medial temporal and prefrontal areas predicts subsequent memory performance: human declarative memory formation at the system level

After an era in which lesion studies have identified the declarative memory system and its essential anatomical structures, functional imaging and event-related potential studies have begun to delineate the neural underpinnings of declarative memory formation at the system level. By memory formation, we refer to those mnemonic processes present during encoding that transform perceptual representations into enduring memories. Recent studies have revealed that distinct regions in medial temporal and prefrontal areas exhibit more neural activity during successful than unsuccessful memory formation. We attempt to identify the nature of the processes underlying these subsequent memory effects. Reviewed data suggest specific mnemonic operations in the medial temporal lobe that may be integrated with semantic/perceptual operations and subserving operations in the prefrontal cortex. The formation of relational and non-relational memories may be supported by distinct subregions within these two brain regions. While the medial temporal lobe may have a serial organizational structure, with a processing hierarchy, interactions between medial temporal and prefrontal areas seem to occur in a parallel and bi-directional fashion. Interacting with this system, emotionally arousing events enhance neural activity in the amygdala, which in turn may modulate processing in other brain regions responsible for declarative memory formation.     

罕见的成人睡眠相关节律性运动障碍一例并文献复习

睡眠相关节律性运动障碍是一组以躯体大组肌群重复性、刻板性、节律性动作为特征的疾病,主要发生于开始睡眠时和睡眠中,婴幼儿期发病常见,持续至成年或成年期发病者罕见。本文回顾分析1例成人期发病的睡眠相关节律性运动障碍患者的诊断与治疗经过。男性患者,76岁,临床主要表现为睡眠中节律性敲打前额部,发作时敲打数下至数十下不等、停顿数秒后再次发作,持续1～2 h,清醒后不能回忆。多导睡眠图监测显示,睡眠效率降低,夜间觉醒次数增加、觉醒时间延长,睡眠结构紊乱,非快速眼动睡眠期1和2期比例增加,快速眼动睡眠期比例减少、潜伏期延长,睡眠呼吸暂停低通气指数为8.40;可见数次异常行为发作,每次发作持续3～18 s、频率0.60～1.20 Hz,总发作时间6 min。临床诊断为睡眠相关节律性运动障碍,予氯硝西泮0.50 mg/晚和普拉克索0.0625 mg/晚规律服用33个月,效果良好。同时复习相关文献,有助于提高睡眠相关节律性运动障碍的诊断与治疗水平,减少漏诊和误诊。     

Evidence for a differential contribution of early perceptual and late cognitive processes during encoding to episodic memory impairment in schizophrenia

Objectives: Schizophrenia is characterised by significant episodic memory impairment that is thought to be related to problems with encoding, however the neuro-functional mechanisms underlying these deficits are not well understood. The present study used a subsequent recognition memory paradigm and event-related potentials (ERPs) to investigate temporal aspects of episodic memory encoding deficits in schizophrenia.

Methods: Electroencephalographic data was recorded in 24 patients and 19 healthy controls whilst participants categorised single words as pleasant/unpleasant. ERPs were generated to subsequently recognised versus unrecognised words on the basis of a forced-choice recognition memory task. Subsequent memory effects were examined with the late positive component (LPP). Group differences in N1, P2, N400 and LPP were examined for words correctly recognised.

Results: Patients performed more poorly than controls on the recognition task. During encoding patients had significantly reduced N400 and LPP amplitudes than controls. LPP amplitude correlated with task performance however amplitudes did not differ between patients and controls as a function of subsequent memory. No significant differences in N1 or P2 amplitude or latency were observed.

Conclusions: The present results indicate that early sensory processes are intact and dysfunctional higher order cognitive processes during encoding are contributing to episodic memory impairments in schizophrenia.