家族性多发性硬化两例的临床特点

多发性硬化（multiple sclerosis，MS）是中枢神经系统白质炎性脱髓鞘性疾病，其特点为空间和时间上的多发，其发病原因可能是有遗传易患性的个体在特定环境巾受到感染而诱发的自身免疫反应，人们早已发现MS具有家族聚集性，已有1个家族中出现多位患者的报道，同胞间患病的相对危险度也有增加，而MS患者的二、三级亲属其患病风险将会增高。我们将兄弟2人同患MS的一家系报道如下．     

晚发型偏头痛与青年偏头痛临床特点的比较

目的 比较晚发型偏头痛和青年偏头痛患者的临床特点.方法 对40例晚发型偏头痛患者(晚发型组)和40例青年偏头痛患者(青年组)的临床资料进行收集和比较.结果 晚发型组19例(47.5％)发病有明显诱因,青年组3例(7.5％)有明显诱因,差异有统计学意义(P＜0.05).晚发型组中先兆型偏头痛6例(15.0％),无先兆型33例(82.5％),偏瘫型1例(2.5％);青年组先兆型偏头痛15例(37.5％),无先兆型25例(62.5％).晚发型组中先兆型比率显著低于青年组(P＜0.05).晚发型组单侧头痛及额部头痛的比率及头痛程度显著低于青年组,双侧头痛及全头痛的比率显著高于青年组(均P＜0.05).晚发型组伴面色苍白、厌食及口干的比率显著高于青年组(均P＜0.05).晚发型组头痛性质、持续时间、发作频率及缓解因素与青年组比较,差异无统计学意义.结论 与青年偏头痛相比,晚发型偏头痛患者发作有诱因的比率高,出现先兆症状少,头痛程度轻,多为双侧及全头痛;易合并自主神经症状.     

偏头痛患者药物过度使用性头痛相关因素及临床特点

目的：探讨偏头痛患者药物过度使用性头痛的相关因素及其临床特点。方法选取我院偏头痛患者130例,药物过度使用性头痛（MOH）42例为观察组,非MOH患者88例为对照组。回顾性总结患者临床资料,分析相关因素及MOH的临床特点。结果观察组平均年龄（44.12±11.32）岁,病程（7.76±3.78）a ,家族史13例（30.95％）;对照组平均年龄（36.04±11.43）岁,病程（5.65±3.21） a ,家族史9例（10.23％）。观察组VAS评分为（8.43±2.14）分,MIDAS评分为（57.98±12.43）分;对照组（4.98±1.98）、（38.43±11.23）分。观察组患者长期服用非甾体抗炎药22例（52.38％）,服用多种止痛药5例（11.90％）,服用盐酸吗啡片2例（4.76％）,不按说明书服药或不遵医嘱服药23例（54.76％）。观察组患者在停止过度服药后共32例（76.19％）出现戒断症状。结论年龄、病程、家族史是M O H的相关因素,M O H的疼痛程度和致残程度均高于非MOH组,且戒断症状发生率较高。     

偏头痛患者药物过度使用性头痛的相关因素及临床特点

目的探讨偏头痛患者药物过度使用性头痛的相关因素,并总结其临床特点。方法选取我院神经内科于2012-08—2014-08收治的60例药物过度使用性头痛患者以及60例非药物过度使用性头痛患者作为研究对象,对比观察2组患者的视觉模拟评分及偏头痛致残程度评分。结果观察组年龄、病程明显高于对照组(P0.01),有家族史患者明显多于对照组(P0.05)。观察组VAS评分及MIDAS总分明显高于对照组,差异具有统计学意义(P0.01)。观察组停药后61.67%的患者出现戒断症状,包括易激惹、近事遗忘、注意力分散、睡眠障碍、抑郁、焦虑、坐立不安、心悸、呕吐、恶心等,给予积极对症治疗于3~14d内消失。结论偏头痛患者药物过度使用性头痛的相关因素主要有年龄、病程及家族史等,头痛程度以及致残程度较高,停用药物后极易引起戒断症状。     

前庭性偏头痛患者的临床特点及眼震电图研究

目的 探讨前庭性偏头痛(VM)临床特点及不同条件诱发的眼震特点.方法 收集VM患者、无眩晕和偏头痛的健康对照组各100例,记录各组研究对象的临床资料,利用视频眼震图仪(VNG)观察VM患者于不同诱发条件下眼震电图的特点.结果 VM以围绝经期女性高发,62例表现为自发性眩晕,29例位置性眩晕,2例自发性眩晕与位置性眩晕共...     

偏头痛慢性转化的临床危险因素分析

目的比较慢性偏头痛(CM)与发作性偏头痛(EM)的病史特征、临床特点等,探究偏头痛慢性转化的危险因素,为其防治提供依据和策略。方法共纳入在中南大学湘雅医院神经内科就诊的CM患者72例及EM患者109例进行回顾性分析。采集患者基本信息,先进行单因素分析,筛选有统计学意义的指标进行相关分析和非条件性多因素logistic回归分析。结果单因素分析发现两组的BMI(P=0.000)、病程(P=0.000)、基线头痛发作频率(P=0.000)、基线头痛持续时间(P=0.037)、匹兹堡睡眠质量指数量表(PSQI,P=0.000)、焦虑自评量表(SAS,P=0.000)及抑郁自评量表(SDS,P=0.001)差异有统计学意义。logistic回归分析显示BMI(OR=1.468,95%CI:1.148～1.876)、病程(OR=1.102,95%CI:1.022～1.188)、基线头痛发作频率(OR=1.461,95%CI:1.247～1.711)、睡眠质量(OR=1.494,95%CI:1.198～1.864)、焦虑状态(OR=1.201,95%CI:1.048～1.376)是偏头痛慢性转化的危险因素。结论控制体重、减少头痛发作频率、缩短病程、改善心境状态与睡眠质量,有可能延缓偏头痛的慢性进展。     

晚发型偏头痛与青年（早发型）偏头痛临床特点比较

目的：比较晚发型偏头痛和早发型偏头痛临床特点。方法按患者年龄是否≥45岁,将90例偏头痛患者分为晚发型偏头痛组（≥45岁,晚发组）和早发型偏头痛组（＜45岁,早发组）,通过病历资料回顾,从诱发因素、临床分型、头痛性质及部位、头痛程度和持续时间、头痛发作频率和伴随症状等方面比较2组临床特点。结果2组在诱发因素、临床分型、头痛性质（部位）、头痛程度和持续时间、头痛发作频率、伴随症状等临床特点方面差异有统计学意义（ P＜0.05）。结论晚发型偏头痛和早发型偏头痛具有不同的临床特点。在临床治疗方面,要根据不同的临床特点予以针对治疗。     

偏头痛慢性转化的临床危险因素分析

目的 比较慢性偏头痛（CM）与发作性偏头痛（EM）的病史特征、临床特点等,探究偏头痛慢性转化的危险因素,为其防治提供依据和策略。方法 共纳入在中南大学湘雅医院神经内科就诊的CM患者72例及EM患者109例进行回顾性分析。采集患者基本信息,先进行单因素分析,筛选有统计学意义的指标进行相关分析和非条件性多因素logistic回归分析。结果 单因素分析发现两组的BMI（P=0.000）、病程（P=0.000）、基线头痛发作频率（P=0.000）、基线头痛持续时间（P=0.037）、匹兹堡睡眠质量指数量表（PSQI,P=0.000）、焦虑自评量表（SAS,P=0.000）及抑郁自评量表（SDS,P=0.001）差异有统计学意义。logistic回归分析显示BMI（OR=1.468,95%CI：1.148~1.876）、病程（OR=1.102,95%CI：1.022~1.188）、基线头痛发作频率（OR=1.461,95%CI：1.247~1.711）、睡眠质量（OR=1.494,95%CI：1.198~1.864）、焦虑状态（OR=1.201,95%CI：1.048~1.376）是偏头痛慢性转化的危险因素。结论 控制体重、减少头痛发作频率、缩短病程、改善心境状态与睡眠质量,有可能延缓偏头痛的慢性进展。     

致死性家族性失眠症的临床特点及脚基因突变分析

目的：探讨中国致死性家族性失眠症（FFI）患者的临床及PRNP基因突变特点。方法：对一个FFI家系进行调查并综合分析先证者的临床资料;应用PCR技术结合DNA直接测序方法对先证者进行PRNP基因的突变筛查,回顾分析中国已报道的FFI先证者的临床特点。结果：在该先证者检出朋^垆基因2号外显子上的c．532G〉A（p．D178N）突变及c．385AA（p．129MM）多态,据此可确诊为FFI。Meta分析提示中国FFI患者的临床表现均较典型,PRNP基因单体型均为D178N-129MM。结论：尽管FFI患者的临床表现较典型,但对临床上疑为FFI的患者,仍应进行艄ⅣP基因突变筛查以助确诊。     

偏头痛性眩晕临床诊治的前瞻性研究

目的 探讨偏头痛性眩晕的临床特点,观察偏头痛性眩晕对偏头痛预防性药物治疗的反应.方法 前瞻性登记偏头痛性眩晕的患者,分析其人口学及临床特点,随访患者对偏头痛预防性药物治疗的反应.结果 偏头痛性眩晕患者以女性为主,眩晕起病与头痛起病平均相差12.72年,眩晕的持续时间及与头痛发作的关系各异,仅27.58%患者的眩晕满足ICHD-Ⅱ对偏头痛先兆的诊断标准.接受氟桂利嗪或多塞平治疗后,偏头痛性眩晕患者的眩晕发作频率及眩晕发作日明显下降.结论 眩晕与偏头痛发作之间的关系是主要的诊断依据.偏头痛预防性药物可能对偏头痛性眩晕的预防有效,其临床效用仍须进一步证实.     

A community-based study of insomnia in Hong Kong Chinese children: Prevalence, risk factors and familial aggregation

ObjectivesThere has been limited data on familial aggregation of insomnia. We aimed to explore the prevalence, risk factors and familial aggregation of childhood insomnia with a large community-based sample.MethodsA community-based epidemiologic study of sleep disorders was conducted among primary school children. Those children with at least one reported biological parent were recruited. A total of 5695 children (mean age 9.2; SD 1.8), 4939 of their reported biological mothers (mean age 38.9; SD 4.6) and 4289 of their reported biological fathers (mean age 43.3; SD 5.5) were studied.ResultsThe rates of insomnia ?3 times/week in the past 12 months were 4.0%, 12.8% and 9.7% for children, mothers and fathers, respectively. A robust familial aggregation of insomnia was found even after adjustment of the shared environmental and socio-demographic factors. There was a significant dose–response relationship among the children across their parental status from neither, fathers, mothers to both parents with insomnia [3.0%, 7.1%, 9.5% and 11.9%; with ORs (95% CIs) = 2.48 (1.82–4.37) for fathers, 3.42 (2.55–4.59) for mothers and 4.42 (2.42–8.10) for both parents, respectively]. In addition, the frequency of insomniac symptoms of the parents also had a dose–response effect on the rate of insomnia of their children.ConclusionsInsomnia is a common problem in both children and their parents. A significant familial aggregation of childhood onset insomnia was seen in this study even after adjustment of the co-risk factors. There was a dose–response effect of parental insomnia on the rate of insomnia of their children with a slight predilection of maternal influences.     

中国南方人偏头痛CACNAlA基因多态性相关研究

研究目的:通过检测偏头痛患者和FHM家族外周血CACNAlA基因三个常见的突变位点,分析探讨中国南方人FHM与CACNAlA基因突变之间的关系。2.方法:采用SSCP方法对2个FHM家族10个受试者及12个无症状亲属和53个无FHM家族史的有先兆偏头痛及10个健康对照的外周血标本进行检测,分析CACNAlA基因的三个常见突变位点(T666M、R583Q和D715E)在FHM家族中的表现形式。3.结果:CACNAlA基因三个常见的突变T666M、R5830和D715E在2个FHM家族10个受试者12个无症状亲属和53个无FHM家族史的有先兆偏头痛及10个健康对照中均未检测到。4.结论:在中国人FHM家族中未发现有T666M、R583Q和D715E三个突变。FHM以及有先兆偏头痛与CACNAlA基因的相关性有待进一步研究。     

Clinical characteristics of major depressive disorder run in families--a community study of 933 mothers and their children

The familial aggregation of Major Depressive Disorder (MDD) has been repeatedly demonstrated. Several studies have investigated associations between various clinical characteristics of MDD in probands and overall rates of MDD in relatives. Few studies, however, have considered the familial aggregation of clinical characteristics of MDD. The aim of the present report is to examine mother-offspring associations of a variety of clinical characteristics of MDD in a general population sample. Data were derived from baseline and 4-year-follow-up data of 933 adolescents and their biological mothers of the Early Developmental Stages of Psychopathology (EDSP) study, a prospective-longitudinal community study. MDD and its characteristics were assessed with the Munich-Composite International Diagnostic Interview. We found that children of mothers who had a lifetime history of severe MDD and high number of symptoms, high impairment and/or melancholia, revealed elevated odds of MDD regarding the same characteristics as their mothers (ORs between 5.2 and 13.9). The observed associations did not differ by the children's sex. DSM-IV melancholia and severity as well as impairment were found to aggregate within families. This finding can be interpreted as a validation of the DSM-IV MDD severity subtypes as well as of the melancholic specifier. Severe and melancholic MDD reveal a considerable high degree of familiar aggregation making the search for mechanisms involved in the familiar transmission of these forms of MDD particularly promising.     

家族性ALS的临床特征及基因分析

目的探讨肌萎缩侧索硬化症(ALS)家系的临床特点及SOD1基因突变规律。方法详细分析一个FALS大家系的临床特征、肌电图改变、遗传方式,用PCR-SSCP法检测SOD1基因的突变。结果该家系有6代、237人,其中13人患病,8人死于ALS,具典型ALS症状,但起病前有较长一段时间肌肉纤颤期。PCR-SSCP法检测SOD1基因未发现突变,为非SOD1基因突变的ALS家系。结论(1)对于家族性肌跳的患者,宜动态观察其肌电图的改变,注重临床随访;(2)该家系可能存在一个非SOD1基因的、新的FALS致病基因。     

家族性颞叶癫痫的临床与脑电图特征分析

目的探讨家族性颞叶癫痫(FTLE)的临床和脑电图(EEG)特点。方法收集6个 FTLE的家系资料,通过详细的调查,建立较完善的家系谱,并对受累者的临床资料、EEG进行分析总结。结果6个家系共78名家族成员,其中受累者20例,每个家系2-6例受累者不等,2代发病居多。发病年龄0．5-27岁,平均(13．7±10．5)岁。平均发作频率(6．7±8．9)次/月。表现为复杂部分性发作13 例次(76．5％),继发全身强直一阵挛性发作12例次(70．6％),单纯部分性发作4例次(23．5％),强直发作和全身强直一阵挛性发作各1例次;无法分类3例。20例受累者中3例出现复杂视幻觉,1例出现听幻觉。受累者中13例进行发作间期EEG检查,仅1例示颞叶局灶痫性放电(7．7％),2例痫性异常放电, 余未见明显异常;10例进行MRI检查,仅1例示右额颞发育异常(10．0％)。18例受累者疗效观察,3例发作自然缓解,另15例接受抗癫痫药物(AEDs)治疗,14例有效(4例发作控制),仅1例无效。结论 FTLE家庭受累者临床症状呈多样性,发作间期EEG大部分未见局灶异常放电,MRI检查未见异常。 FTLE的正确诊断主要依据患者临床发作特征和家系谱,AEDs治疗疗效良好。     

Clinical features of familial moyamoya disease

Objects This study aims to clarify the genetic background of moyamoya disease by comparing clinical features between familial and sporadic cases to reveal the responsible genes for familial moyamoya disease.Methods This study included 155 Japanese patients with moyamoya disease, which included 24 familial cases (10 family pedigrees) and 131 sporadic cases. Clinical features were compared between the familial and sporadic cases.Results and conclusion A female preponderance was significantly more prominent in the familial than in the sporadic group (P=0.0421). Mean age at onset was significantly lower in familial than in sporadic cases (P=0.004). In eight parent–offspring pairs, mean age at onset was significantly lower in the second than in the first generation (P<0.0001). These results suggest that familial moyamoya disease is associated with genetic anticipation and female predominance and that a genetic analysis study focused on expanded triplet repeats may clarify the pathogenesis of the disease.     

Familial aggregation of schizotypy in schizophrenia-spectrum disorders and its relation to clinical and neurodevelopmental characteristics

IntroductionThis study explored schizotypy as a familial liability marker for schizophrenia-spectrum disorders (SSD) by examining: 1) the aggregation of schizotypy in families with a SSD patient, 2) whether familial resemblance of schizotypy is associated with ridge dissociations (RD), another SSD liability marker, 3) whether schizotypy aggregation patterns influence patients' psychopathology.MethodsThe sample comprised 30 SSD patients and 82 healthy first-degree relatives. Schizotypy was assessed using the Structured Interview for Schizotypy-Revised (SIS-R). Patients' psychopathology was evaluated using the Comprehensive Assessment of Symptoms and History (CASH). RD were identified as anomalies of the dermal ridge junction. Familiality of SIS-R was investigated using a linear mixed model (LMM) and its strength was assessed using an intraclass correlation coefficient (ICC). Another LMM using the absolute differences in SIS-R scores between all possible pairs of relatives as the dependent variable was fitted to obtain an intra-family resemblance score, a family-specific indicator of resemblance of SIS-R scores within each family.Results1) Schizotypy was familial (ICC = 0.30); families with high resemblance displayed low schizotypy, whereas families with low resemblance included at least one healthy relative with high schizotypy (p < 0.001). 2) Relatives with RD had higher SIS-R scores (p = 0.018) and belonged to families with discordant schizotypy scores among members (p < 0.001). 3) Patients from high schizotypy families showed more severe disorganized symptoms at the psychotic episode (p = 0.035) and 1 year later (p = 0.011).ConclusionsSchizotypy is a marker of vulnerability for SSD that runs within a subgroup of families. The schizotypy familial aggregation pattern correlates with RD in relatives and with patients' psychopathology.     

Is the CACNA1A gene involved in familial migraine with aura?

The discovery of mutations in the neural calcium channel (CACNA1A) gene in familial hemiplegic migraine (FHM), variant of migraine with aura, led to the suggestion that this gene might be involved in familial migraine with aura (FMA). We investigated whether the mutations in FHM are present in FMA patients, analyzing genomic DNA by PCR, single stranded conformation polymorphism, sequencing and restriction enzyme. No mutations were found. A known polymorphism (5682–14C>T) was found in exon 36. These findings suggest that the mutations found in FHM and the other known mutations of the CACNA1A gene are not the genetic basis of FMA. Genetic alterations in FMA patients may be localized on chromosome 19 but not in the CACNA1A exons we investigated. Received: 25 January 2002 / Accepted in revised form: 25 February 2002     

Differences in factors influencing the familial aggregation of febrile convulsion in population and hospital patients

Socio-demographic data, initial clinical manifestations, outcome and family aggregation of febrile convulsion (FC) were compared between 85 population and 364 multicenter patients. More patients presented with clustering of seizures and had recurrence of FC in multicenter group than in population group. Multicenter patients had more fever episodes per year more day-care attendance and a higher incidence of FC history in their parents. The odds ratio of FC in the siblings was 6:1 in population group and 12:1 in multicenter group. Lower socioeconomic status influenced the presence of FC in the sibling of population group. Instead, FC histories in the father and paternal cousins of probands had influence on the presence of FC in the siblings of multicenter group. We conclude that the population FC sample rather than the hospital sample is the more representative. And there are differences not only in the clinical manifestations but also in the effect of environmental and genetic influences on the family aggregation in population and hospital patients.     

Alzheimer's disease: identical phenotype of familial and non-familial cases

Summary Ninety outpatients with Alzheimer's disease according to ICD-10 diagnostic draft criteria were studied to test the hypothesis that cases with a familial aggregation are different from cases without such an aggregation with respect to cognitive impairment. In all cases the diagnosis of Alzheimer's disease was confirmed by prospective observation within 12 months of initial evaluation. Patients were divided into two groups: one consisting of 23 patients with a familial aggregation, the other consisting of 67 patients without secondary cases among first-degree relatives. By means oft-tests differences in impairment of cognitive functions between the groups were calculated. The results did not yield statistically significant differences between the groups for any of the neuropsychologically investigated cognitive deficits. Thus the hypothesis that the presence of a familial aggregation may lead to a distinct phenotype in Alzheimer's disease was not confirmed.