家族性发作性运动诱发性运动障碍三个家系的临床及遗传学特点

目的探讨家族性发作性运动诱发性运动障碍（paroxysmal kinesigenic dyskinesia，PKD）的临床及遗传学特点，提高临床医师对该病的认识。方法总结分析3个汉族家族性PKD家系患者的临床资料，并进行详细的家系调查。结果3个家系共有患者25例，其中男性16例，女性9例。起病年龄1～10岁，发作由运动诱发，发作时意识清楚，发作持续时间在30s以内。查体未见异常，无明显智能障碍。发作次数10～50次／d，随年龄增长发作次数减少，卡马西平可完全缓解症状。家系遗传方式均符合常染色体显性遗传模式。家系中男性患者的临床表现比女性严重，未经治疗时，女性患者症状自然缓解的年龄比男性患者早。结论家族性PKD的主要遗传方式为常染色体显性遗传，在临床及遗传上可能存在异质性。男性患者临床表现比女性严重，可能与不同种族的遗传异质性有关。女性患者比男性症状轻，自然缓解年龄早，可能导致多数女性患者不完全外显，使得女性发病相对较少。     

发作性运动诱发性运动障碍八个家系临床特点分析

目的分析及探讨家族性发作性运动诱发性运动障碍（PKD）的临床特征、诊断和治疗特点。方法观察8个PKD家系的临床表现，进行家系调查分析，对患者进行脑电图或视频脑电图、头颅磁共振成像（MRI）或CT检查。结果8个家系共有患者28例，男性20例，女性8例，发病年龄8～18岁，平均10．8岁。全部患者均表现为突然运动诱发的一侧或双侧异常运动，发作时间短于1min，发作时意识清楚；发作间期均无神经系统阳性体征。同一家系中患者症状轻重不一，随年龄增大发作逐渐减少，以至消失。脑电图、视频脑电图及头颅影像学均未发现明显异常。患者使用抗癫痫药物治疗有效。结论PKD是发作性异常运动中常见的一种，突然运动诱发是其主要特点，家族性患者不少见，主要遗传方式是常染色体显性遗传，有外显不全现象，不排除有其他的遗传方式。临床发作形式与癫痫不同，但抗癫痫药物治疗有效。     

发作性运动诱发性舞蹈手足徐动症

目的探讨发作性运动诱发性舞蹈手足徐动症的发病机制、临床特征及电生理表现。方法回顾性分析18例发作性运动诱发性舞蹈手足徐动症（PKC）患者的临床资料并结合相关文献进行讨论。结果18例患者，男14例，女4例；均为青少年发病，1例有家族病史，其外祖母、母亲年青时（〈20岁）、妹妹均有类似发作史，1例25岁发病．后证实有原发性甲状旁腺功能低下。发病均由突然运动诱发，表现为一侧或双侧肢体及面部（眼肌、舌肌等）的不自主运动．多持续数秒钟自行缓解。发作中无意识障碍。发作间期无异常表现。18例患者神经系统检查均未见异常，均行头CT和（或）MRI检查，3例有影像学异常。所有患者均行脑电图（EEG）检查，其中3例有痫样放电，余正常。诊断为特发性发作性运动诱发性舞蹈手足徐动症（PKC／PKD），经服用卡马西平、丙戊酸钠等药物后发作均得到有效控制。结论PKC由突然运动诱发．表现为发作性不自主运动等锥体外系症状。可呈常染色体显性遗传，亦可散发；可为特发性，也可继发于多发性硬化、原发性甲状旁腺功能低下等疾病。部分患者EEG有痫样放电，抗癫痫药物治疗有效。提示PKC的发病机制可能与癫痫类似，但预后良好。     

单纯型家族性发作性运动诱发性运动障碍二家系基因连锁分析

目的 对2个中国汉族单纯型发作性运动诱发性运动障碍(PKD)大家系进行排除定位,为PKD发病机制的探讨及疾病基因的克隆奠定基础.方法 抽取2个家系27名成员外周血,选取16号染色体上覆盖目前已知PKD位点的微卫星标记,进行参数及非参数连锁分析,并进行单体型分析.结果 通过对2个显性遗传的PKD大家系的参数及非参数连锁分析发现,家系A的最大LOD值以及NPL值均为负值,P＞0.05,排除与已知的PKD位点连锁;家系B的最大LOD值＜1,最大NPL值0.77,P＞0.05,不支持致病基因与已知PKD位点连锁.进一步对2个家系进行单体型分析,排除其致病基因位点与已知位点连锁,提示存在新的PKD疾病基因位点.结论 PKD具有遗传异质性,单纯型PKD家系存在新的疾病基因位点.     

汉族癫癎家系遗传模式及其临床特征分析

目的研究108个汉族癫癎家系的遗传模式及其临床特征。方法用分离分析法和多基因阈值理论结合系谱分析对108个癫癎家系的遗传方式进行调查，同时按遗传流行病学方法研究其表型及其临床特征。结果共调查108个癫癎家系的2919个家庭成员。共发现24个常染色体显性遗传家系，19个X-连锁显性或隐性遗传家系，51个常染色体隐性遗传家系，另有14个家系为非孟德尔遗传模式。2个家系符合家族性颞叶癫癎，1个家系符合具有不同病灶的家族性部分性癫癎。108个家系中共有患者537例（已死亡67例），其中复杂部分性发作45例，单纯部分性发作12例，部分继发全身强直一阵挛性发作213例，强直性发作13例，全身强直．阵挛性发作254例。结论重庆地区和四川省的汉族癫癎家系有多种不同的遗传模式。不同家系、同一家系中的不同患者可有不同的表型或预后。应特别关注家族性颞叶癫癎、具有不同病灶的家族性部分性癫癎的存在。     

发作性运动诱发性运动障碍一家系临床与遗传学特点

目的探讨家族性发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD)临床及遗传学特点。方法对1个PKD家系共14名成员进行PRRT2基因检测及调查随访,其中患病2例(1例住院治疗,另1例未治疗),总结分析其临床表现、遗传特点、药物治疗效果及预后。结果该家系2例患者均为男性,患病率14.3%,其中1例不治自愈,1例用卡马西平疗效显著,用拉莫三嗪也有效。该家系为单纯性PKD家系,PRRT2基因检测结果显示该家系中3例存在突变c.797GA(p.266RQ),其中1例无临床症状,符合常染色体显性遗传,伴不全外显,存在遗传早现;该家系合并存在多囊肾家族史。结论单纯家族性PKD抗癫痫药物疗效与突变类型及临床特征有关;治疗方案选择应以临床特点及突变类型为依据。     

常染色体显性遗传的遗传性痉挛性截瘫一家系的临床特点与致病基因排除定位分析

遗传性痉挛性截瘫（SPG）是一组具有明显临床和遗传异质性的神经系统遗传病，患病率2．0／10万～9．6／10万。按临床表现可分为单纯型和复杂型；按遗传方式分为常染色体显性遗传（AD）、常染色体隐性遗传（AR）和X-连锁隐性遗传（XR），其中以AD遗传最为常见。我们诊断1个AD遗传的SPG家系，对该家系临床特点和致病基因进行了排除定位分析，报道如下。     

X-连锁隐性遗传肌张力障碍一家系10例

原发性肌张力障碍（idiopathic torsion dystonia，ITD）是指因持续性肌肉收缩而引起的肢体扭曲或重复运动综合征，是全身性肌张力障碍的一种表现。ITD是一种遗传病，可分为常染色体显性、常染色体隐性和X-连锁隐性遗传。ITD在犹太人中发病率可高达1／15000，在非犹太人群则为1／200000。国内曾有常染色体显性遗传肌张力障碍家系的报道，而X-连锁隐性遗传肌张力障碍（X-linked dystonia parkinsonism，XDP）未见报道。我科于2004年9月收治了1例XDP患者，现将该家系报道如下。     

家族性特发性震颤6家系临床及遗传特点分析

目的 分析家族性特发性震颤(familial essential tremor,FET)的临床特点,探讨该病的分子遗传学进展.方法 回顾性分析6个家族性特发性震颤家系的临床及遗传学特征.结果 6个家系共32例患者,男22例,女10例,发病年龄25～71岁,其中家系A中有2例患者合并甲状腺功能亢进症,家系B与C中各有1例伴听力下降.除F外的5个家系有连续2代以上发病,符合常染色体显性遗传,且有遗传早现现象.家系F只有一代患者,但3名同胞均患病.结论 FET呈现出常染色体显性遗传的特点,存在临床和遗传异质性.迄今已发现FET存在多个遗传位点,但尚未找到确切的致病基因.     

常染色体显性遗传成人癫癎、震颤伴共济失调临床及致病基因定位研究

目的探讨常染色体显性遗传成人癫癎、震颤伴共济失调的临床特征并排除已知的致病基因。方法对可追溯6代130人的一家系的30名成员（包括11例患者）进行详细的神经系统检查，通过查询人类孟德尔遗传病数据库（OMIM）及表型鉴别、突变筛查和连锁分析验证方法排除已知致病基因；采用模拟连锁分析软件对该家系进行评估。结果该家系患者临床表现为多种形式的癫癎发作、震颤、肌阵挛小脑协调障碍和锥体束征。通过3种方法排除了已知基因致病可能，模拟连锁分析显示重组率为零时LOD值为6．03。结论该家系可能为尚未报道的常染色体显性遗传癫癎、震颤伴共济失调综合征，模拟分析证实它可为连锁分析提供足够的遗传信息，为定位克隆奠定了基础。     

The effect of age of onset of PD on risk of dementia

Background Dementia occurs in the majority of patients with Parkinson’s disease (PD). Late onset of PD has been reported to be associated with a higher risk for dementia. However, age at onset (AAO) and age at baseline assessment are often correlated. The aim of this study was to explore whether AAO of PD symptoms is a risk factor for dementia independent of the general effect of age. Methods Two community-based studies of PD in New York (n = 281) and Rogaland county, Norway (n = 227) and two population-based groups of healthy elderly from New York (n = 180) and Odense, Denmark (n = 2414) were followed prospectively for 3–4 years and assessed for dementia according to DSM-IIIR. All PD and control cases underwent neurological examination and were followed with neurological and neuropsychological assessments. We used Cox proportional hazards regression based on three different time scales to explore the effect of AAO of PD on risk of dementia, adjusting for age at baseline and other demographic and clinical variables. Findings In both PD groups and in the pooled analyses, there was a significant effect of age at baseline assessment on the time to develop dementia, but there was no effect of AAO independent of age itself. Consistent with these results, there was no increased relative effect of age on the time to develop dementia in PD cases compared with controls. Interpretation This study shows that it is the general effect of age, rather than AAO that is associated with incident dementia in subjects with PD. Received in revised form: 22 December 2005     

帕金森病运动症状进展分析

目的分析帕金森病(PD)患者运动症状进展特点。方法采用PD统一评分量表(UPDRS)Ⅲ对912例PD患者进行评估。结果与病程1年的患者比较,除病程1~2年的患者外,其他病程患者的UPDRSⅢ评分、强直分、姿势或步态异常分、轴性症状总分、言语分、步态分显著升高(均P0.05),病程5~6年及14年患者的震颤分,病程5~6年、7~8年、9~13年、14年患者的运动迟缓分、姿势分显著升高(P0.05~0.01)。轴性症状进展速度高于UPDRSⅢ评分。结论 PD患者病程早期UPDRSⅢ评分进展快,震颤症状进展独立于其他症状,轴性症状评分较UPDRSⅢ更敏感地反映疾病加重趋势。     

Frequency of accumulation of filaments in adaxonal cytoplasm of Schwann cells of myelinated fibers of rat spinal roots

Summary The frequency of accumulation of 6-nm filaments in the adaxonal cytoplasm of Schwann cells in the 6th lumbar dorsal and ventral roots was evaluated in 4-, 8-, 26- and 45-week-old Sprague-Dawley rats. The frequency was higher in 4- and 8-week-old (growing) rats than in 26- and 45-week old (mature) rats, and also higher in ventral than in dorsal roots in 4-, 8- and 26-week old rats. There were no clusters on certain groups of myelinated fibers according to the size of transverse axonal area, in both the ventral and dorsal roots. Therefore, this accumulation may reflect certain functions of the adaxonal cytoplasm of Schwann cell during natural growth and maturation of the axon and myelin sheath.     

Function of circle of Willis

Nearly 400 years ago, Thomas Willis described the arterial ring at the base of the brain (the circle of Willis, CW) and recognized it as a compensatory system in the case of arterial occlusion. This theory is still accepted. We present several arguments that via negativa should discard the compensatory theory. (1) Current theory is anthropocentric; it ignores other species and their analog structures. (2) Arterial pathologies are diseases of old age, appearing after gene propagation. (3) According to the current theory, evolution has foresight. (4) Its commonness among animals indicates that it is probably a convergent evolutionary structure. (5) It was observed that communicating arteries are too small for effective blood flow, and (6) missing or hypoplastic in the majority of the population. We infer that CW, under physiologic conditions, serves as a passive pressure dissipating system; without considerable blood flow, pressure is transferred from the high to low pressure end, the latter being another arterial component of CW. Pressure gradient exists because pulse wave and blood flow arrive into the skull through different cerebral arteries asynchronously, due to arterial tree asymmetry. Therefore, CW and its communicating arteries protect cerebral artery and blood–brain barrier from hemodynamic stress.     

Effects of prevention of afferentation of the development of the chick optic lobe

BONDY, S. C., M. E. HARRINGTON AND C. L. ANDERSON. Effects of prevention of afferentation on the developmentof the chick optic lobe. BRAIN RES. BULL. 3(5) 411–413, 1978.—The effects of unilateral extirpation of the right optic cup of the three-day incubated chick embryo upon the rate of synthesis and the stability of DNA in the non-innervated optic lobe, have been studied. This surgical procedure prevents innervation of the optic lobe contralateral to the removed eye, while the other optic lobe is normally innervated by retinal ganglion cells of the remaining eye. At the 20th day of incubation, the DNA content of the non-innervated lobe was below that of the paired lobe receiving normal innervation. This deficiency of cell number was caused by two events; death of an excess number of neurons formed early in embryogenesis and a reduced rate of glial proliferation in the later stages of incubation.     

Modelling of movement of the lamprey: Control of oscillators

This article discusses the control methods of the central pattern generator (CPG). First a control model of the CPG is presented using 2 oscillators, and we suggest that phasic modulation to the CPG by means of phasic information is effective for controlling the phase difference between oscillators. Next, two models for controlling the CPG of a lamprey are proposed. One model describes a control system from the brain stem, in which the reticulospinal neurons control the CPG by receiving feedback signals and sending control signals to the neck region of the CPG. The other is a model for learning an localized control system to generate a desired motor pattern. By means of these models, a role of the efference copy is suggested.     

腺垂体功能减退症临床特征变化分析

目的探讨腺垂体功能减退症患者的病因结构变化及临床表现。方法回顾性分析我院2013-01—2016-12住院及门诊78例腺垂体功能减退症患者的临床资料。结果男32例(41.03%),女46例(58.97%);诊断时年龄11~89岁,平均62.5岁;鞍区占位(包括术前及术后)52例(66.67%),席汉综合征8例(10.26%),空泡蝶鞍9例(11.65%),病因不明8例(10.26%),垂体-下丘脑发育不良1例(1.28%)。首次就诊科室:纳差厌食、恶心呕吐就诊于消化内科36例(46.15%)最常见。ACTH+TSH+Gn+G激素缺乏为19例最多,占24.36%,ACTH+TSH+Gn缺乏15例,占19.23%。结论腺垂体功能减退症病因结构发生变化,发病人群、首发症状及受累激素也不同,患者女性多于男性,发病年龄偏高,症状不典型,分布于临床多个科室,其中以低钠血症为首发临床表现就诊消化内科最多。     

Standards of instrumentation of EMG

Standardization of Electromyography (EMG) instrumentation is of particular importance to ensure high quality recordings. This consensus report on “Standards of Instrumentation of EMG” is an update and extension of the earlier IFCN Guidelines published in 1999. First, a panel of experts in different fields from different geographical distributions was invited to submit a section on their particular interest and expertise. Then, the merged document was circulated for comments and edits until a consensus emerged.The first sections in this document cover technical aspects such as instrumentation, EMG hardware and software including amplifiers and filters, digital signal analysis and instrumentation settings. Other sections cover the topics such as temporary storage, trigger and delay line, averaging, electrode types, stimulation techniques for optimal and standardised EMG examinations, and the artefacts electromyographers may face and safety rules they should follow. Finally, storage of data and databases, report generators and external communication are summarized.     

利培酮对精神分裂症患者生活质量的影响

目的：比较利培酮与氟哌啶醇对精神分裂症患者生活质量的影响。方法：对门诊72例服用氟哌啶醇及74例服用利培酮的精神分裂症患者用生活质量综合评定问卷（GQOLI）、阳性与阴性症状量表（PANSS）、副反应量表（TESS）进行评定。结果：利培酮组患者治疗后生活质量有所提高,而氟哌啶醇组患者生活质量有所下降。结论：利培酮治疗有利于患者提高生活质量。     

Effect of high simple dose of cisplatinum and of radiation on the brain of rabbit

Abstract

In former studies of intracarotid and intravenous administration of cisplatinum, separate and combined with brain irradiation, we found no cerebral damage. In this study! gradually increasing high doses (above the therapeutic ones) of cisplatinum were administered intravenously to one series of rabbits arid increasing high amounts of irradiation (above the therapeutic amounts) were given to another series. Although the rabbits that received highest doses of irradiation developed areas of alopecia and skin ulcers on the head! the general clinical and histopathologic examination of the rabbits brains in both series was normal. The purpose of this study was to establish the effects of high doses of intravenous cisplatinum and irradiation on the rabbits brains. [Neural Res 1997; 19: 216–218]