辽宁地区一脊髓小脑性共济失调大家系症状前患者的基因诊断研究

目的确定辽宁地区一脊髓小脑性共济失调大家系患者子女中目前健康的症状前患者。方法本家系已通过基因诊断的方法明确为SCA3型,所以提取本家系患者子女外周血DNA后,采用聚合酶链反应对SCA3基因三核昔酸重复片段进行扩增,并将PCR异常扩增片断测序,以明确异常扩增等位基因内重复拷贝数。结果 44名患者子女中有8人SCA3基因三核苷酸重复片断在70-82次,超过了正常人SCA3基因内三核苷酸重复的次数。结论通过基因检测诊断出此8人为SCA3型脊髓小脑性共济失调症状前患者。     

多系统萎缩症——附3例报告

本文共3例报告。例1橄榄桥小脑萎缩(简称OPCA)；例2纹状体黑质变性(简称SND)；例3Shy—Drager二氏综合征(简称SDS)。3例病例均为中年起病，起病缓慢，均有锥体外系，小脑及植物神经受损的表现。根据病变累及部位的先后程度不同，临床症状出现的先后次序不一，OPCA主要表现为小脑和锥体外系症状，SND主要以帕金森氏综合征为首发症状。SDS首先以植物神经障碍为主。目前核磁共振(MRI)对诊断多系统萎缩有一定的价值。     

联合应用PCR扩增和Sanger测序对脊髓小脑型共济失调进行基因诊断的临床意义

目的分析1个遗传性脊髓小脑型共济失调(SCA)家系的基因突变情况,对该家系进行分型,为遗传咨询提供依据。方法采集1个SCA家系5例个体(含3例患者)的外周血,提取基因组DNA。设计9对引物,采用聚合酶链反应(PCR)分别扩增SCA1、SCA2、SCA3、SCA6、SCA7、SCA8、SCA12、SCA17、齿状肌麻痹性萎缩(DRPLA)基因,筛选该家系的致病基因。对筛选出的SCA致病基因通过Sanger测序进行验证。结果 3例患者SCA3基因中CAG重复序列数分别为76、78和75,超出文献报道的12～44重复数的正常范围,确诊为SCA3家系。通过PCR扩增及Sanger测序,家系中1例携带CAG重复序列数为74的个体被确诊为SCA3致病基因携带者。结论联合应用PCR扩增和Sanger测序是一种简单易行的SCA基因诊断途径,可应用于携带者诊断和产前诊断。     

小脑梗塞的MRI诊断

目的：了解MRI对小脑梗塞的诊断并结合临床进行分析。方法：对我院68例病例行回顾性分析法。结果：小脑上动脉（SCA）区梗塞7例；小脑前下动脉（AICA）区梗塞12例；小脑后下动脉（PLCA）区梗塞36例；小脑上动脉（SCA）并小脑前下动脉（AICA）区梗塞6例；双小脑后下动脉（PLCA）区梗塞7例．小脑梗塞灶T1WI呈略长T1低信号，T2WI呈略长T2高信号，边缘清楚光滑，病灶无强化。结论：MRI对后颅窝病变，如小脑梗塞的诊断具有可靠性和准确性。     

橄榄体桥脑小脑萎缩的MRI诊断

目的探讨OPCA的MRI的诊断价值。方法回顾总结22例OPCA典型的MRI表现。结果22例病例橄榄体桥脑、小脑半球及蚓部明显萎缩。周围脑室、脑池、脑沟明显扩大。11例桥脑下份“十字交叉”形长T2信号。4例小脑中脚长T2信号。3例合并轻度脑萎缩。结论OPCA的MRI表现具有特征性,能作出正确诊断。     

小脑梗死26例临床分析

由于小脑位于后颅窝这一较特殊部位，且供应小脑的3对动脉：小脑上动脉（SCA）、小脑前下动脉（AICA）、小脑后下动脉（PICA），从相应的动脉发出后均同时供应脑干。故临床表现多样化，给诊断及治疗带来很大困难。过去绝大多数病例只能在手术及尸检中得以确诊，随着CT的普及和MRI的应用，其诊断率有了明显提高。现将我院2000年6月～2006年3月收治的26例小脑梗死分析如下：     

橄榄-桥脑-小脑萎缩的临床与MRI影像分析

橄榄-桥脑-小脑萎缩（OPCA）是一种神经系统变性病,是多系统萎缩（MSA）的三种不同临床亚型之一.分遗传性和散发性两种类型.以桥脑、小脑萎缩为特征,临床主要表现为小脑性共济失调.临床结合影像学改变可做出明确诊断.MRI可三维成像,清晰显示后颅窝解剖结构,目前已成为临床诊断OPCA的首选检查方法.     

多系统萎缩的研究进展

多系统萎缩为中枢神经系统变性疾病 ,包括橄榄桥小脑萎缩 (OPCA)、Shy Drager综合征 (SDS)和纹状体黑质变性(SND) 3个亚型 ,临床表现有自主神经功能衰竭、帕金森综合征和小脑性共济失调三组症状。本文结合历史回顾 ,对近 2年来国外文献中有关该病的临床、病理、诊断、鉴别诊断、预后及今后展望进行综述。     

我国南方汉族人脊髓小脑性共济失调不同基因亚型的频率分布

目的研究分析我国南方汉族人脊髓小脑性共济失调(SCA)不同基因亚型的分布状况。方法对临床诊断为SCA的36个家系43例患者和散发38例患者，采用聚合酶链反应(PCR)对SCA病的三核苷酸重复(17NR)片段进行扩增，并用聚丙烯酰胺凝胶电泳和图像分析软件计算其长度，推算所有正常和异常扩增等位基因内TNR重复次数。结果我国南方汉族人群的SCA患者中SCA3是最常见的类型，占42．0％，而SCA2、SCA1、SCA7、SCA6和SCA12型分别为7．4％、4．9％、3．7％、2．5％和1．2％，未检出SCA8、SCA10、SCA17、DRPIA和FRDA亚型。结论在家族性和散发性SCA患者中，SCA3为最常见类型，PCR检测可确立大部分患者的基因亚型。     

橄榄-桥脑-小脑萎缩的核磁(MRI)T2加权像改变

橄榄-桥脑-小脑萎缩(OPCA)属脊髓小脑系统变性病之一。作为一种原因不明的神经系统变性疾病,临床症状较多复杂。但以桥脑小脑和橄榄核的变形与萎缩为特征。临床主要表现为小脑共济失调。影像学诊断方面均已橄榄桥脑小脑形态改变为特征来描述。本文2例病例,头部MRI示,     

MRI测量诊断橄榄-桥脑-小脑萎缩

目的：通过MRI测量正常成人及OPCA患的脑干及周围间隙，探讨其在诊断OPCA中的价值。方法：正常成人106例和OPCA患21例，采用正中矢状面T1W图像直接光标测量计算。结果：以绝对值测量时OPCA患脑干各径线值均小于正常组；桥脑与桥前池比值（B／F），延髓与延髓前池比值（C／G）在判断脑干的正常形态及异常改变中意义较大。结论：MRI测量可以为诊断OPCA提供较为客观和准确的参考价值。     

Two types of abnormal somatosensory evoked potentials in chronic cerebellar ataxias

To investigate subclinical sensory impairment in spinocerebellar degenerations, median nerve somatosensory evoked potentials (SEPs) were examined in 16 patients with chronic cerebellar ataxia who were originally diagnosed by clinical neurologists as having olivopontocerebellar atrophy (OPCA). Two types of abnormal SEP patterns were found in six patients. Two patients had the SEP pattern of peripheral neuropathy, which was also detected by peripheral sensory nerve conduction studies. Four patients had abnormal SEPs seen in patients with the lesions in the central nervous system (dorsal column, medial lemniscus). Magnetic resonance imaging (MRI) showed multiple sclerosis (MS). It is possible that clinically diagnosed OPCA sometimes includes a similar form of Friedreich's ataxia with subclinical sensory fiber neuropathy detected by SEPs and peripheral sensory conduction studies. In cases of lesions in the central nervous system demonstrated by both SEPs and MRI, there must be a follow-up in order to make a final diagnosis. In those cases, an alternative diagnosis of MS must be considered when the temporal profile of symptoms and signs characteristic of MS is observed.     

ADC mapping of neurodegeneration in the brainstem and cerebellum of patients with progressive ataxias

Analysis of the apparent diffusion coefficient (ADC) maps derived from diffusion-weighted MR imaging is emerging as a reproducible, sensitive, and quantitative tool to evaluate brain damage in diseases of the white and gray matter. To explore the potentials of ADC maps analysis in degenerative ataxias, we examined 28 patients and 26 age-matched controls with T1, T2, and diffusion (b values 0-1000 along the three main body axes)-weighted MR images. Twenty-four patients had inherited genetically proven diseases including spinocerebellar ataxia type 1 (SCA1) (n = 9), spinocerebellar ataxia type 2 (SCA2) (n = 8), and Friedreich's ataxia (FA) (n = 7), whereas four patients had sporadic adult onset pure cerebellar ataxia (three idiopathic, one gluten intolerance). Area and linear measurements of the CNS structures contained in the posterior cranial fossa (PCF) preliminary enabled classification of the patients in the three morphological categories reflecting the gross pathology findings, namely olivopontocerebellar atrophy (OPCA) (n = 10: six SCA2 and four SCA1), spinal atrophy (SA) (n = 7: all FA), and cortical cerebellar atrophy (CCA) (n = 4: three idiopathic and one gluten intolerance). Seven patients with SCA1 (n = 5) or SCA2 (n = 2) had morphologic changes reminiscent of OPCA, but their values were still in the lower normal range and were classified as undefined. Mean diffusivity (D) maps of the entire brain were generated and D was measured with regions of interest (ROI) in the medulla, pons, middle cerebellar peduncles, and the peridentate white matter. Moreover, after exclusion of the skull with manual segmentation and of the CSF with application of a threshold value, histograms were obtained for D of the brainstem and cerebellum and for D of the cerebral hemispheres. As compared to controls, a (P < 0.001) increase of D was observed in the medulla, middle cerebellar peduncles, and peridentate white matter in OPCA and undefined patients groups who had also significantly increased values of the 25th and 50th percentiles in the brainstem and cerebellum D histogram. In CCA (P = 0.01), an increase of the 25th and 50th percentile of the D value was observed in the brainstem and cerebellum histograms. The SA group showed (P < 0.001) an increased D in the medulla only. A correlation between clinical severity as assessed with the Inherited Ataxias Clinical Rating Scale (IACRS) and the 50th percentile of the D value in the brainstem and cerebellum histogram (r = 0.69) was observed in patients with SCA1 or SCA2. Diffusion MR imaging reveals variable patterns of increase of D in the brainstem, cerebellum, and cerebral hemispheres in degenerative ataxias that match the known distribution of the neuropathological changes.     

Severe form of congenital cerebral and cerebellar atrophy: a neurodegenerative disorder of fetal onset

Infantile olivopontocerebellar atrophy (OPCA) is a rare congenital disorder likely due to an intrauterine neurodegenerative condition. Characteristic presentations are failure to thrive, cerebellar ataxia, respiratory insufficiency, and hypotonia or hypertonia. A few cases with severe manifestations (eg, the Pena-Shokeir phenotype) presenting in the neonatal period have also been reported. We present a case of infantile OPCA with the Pena-Shokeir II phenotype and severe atrophy of the cerebellum and cerebral hemispheres. Comparison of prenatal sonographic findings of the fetal brain at 30 weeks' menstrual age and CT findings during the neonatal period indicated prenatal onset of the neurodegenerative process, which progressed rapidly during the last trimester.     

进行性核上性麻痹的脑MRI 研究

目的 研究进行性核上性麻痹（ＰＳＰ）患者的脑萎缩和ＭＲＩ信号密度的变化。并研究这些变化和临床的相互关系。方法 复习了２例ＰＳＰ患者的脑ＭＲＩ,并和７例帕金森病（ＰＤ）,６例橄榄、桥脑、小脑萎缩（ＯＰＣＡ）进行对比分析。结果 Ｔ１加权像矢状位、水平位示２例患者中脑前后径明显变小;Ｔ２加权像示中脑被盖,顶盖部弥散性高信号损害,桥脑的被盖部也可见弥散性高信号迫害,但ＰＤ和ＯＰＣＡ患者没有此种损害。这种信     

伴肌肉痉挛、疼痛的脊髓小脑性共济失调3型家系研究

目的 分析伴有肌肉痉挛的脊髓小脑性共济失调3型（SCA3） 一家系的临床特点.方法 采取家系18名成员的血清,提取DNA进行基因PCR扩增及检测,确定其类型,并对家系成员的临床表现、头颅磁共振、药物疗效等进行分析.结果 该家系6代人中,17人有步态不稳等表现,其中6人已死亡,在世的家系成员中有6人除步态不稳外,还伴有不同程度肌肉痉挛、疼痛等表现,对家系中的18人进行基因检测,其中12人PCR扩增发现相应位点CAG异常重复,证实为SCA3型,先证者头颅MRI发现小脑萎缩,给予卡马西平片治疗,可明显缓解肌肉痉挛、疼痛等症状.结论 报道一个以肌肉痉挛、疼痛为主要临床表现的SCA3型一家系,并发现卡马西平片对缓解SCA3伴发的肌肉痉挛有一定疗效.     

Incidence of genetic subgroups of hereditary spinocerebellar ataxia in Fukushima Prefecture

The prevalence of each type of hereditary spinocerebellar ataxias (SCAs) was genetically determined in Fukushima Prefecture, and the results were compared to those in other areas of Japan. The genetic analyses were done in 29 patients with dominant SCA and 5 patients with SCA with negative family history. Machado-Joseph disease was identified in 41.3% of the cases, SCA6 17.2%, dentatorubral-pallidoluysian atrophy (DRPLA) 6.9% and unknown 34.5%. The incidence is clearly different from those of Miyagi and Yamagata Prefectures as SCA1 has not been identified in our region, and is in fact similar to that of Hokuriku or Kanto Provinces. An apparent difference in the incidence of each SCA may be attributed to the historical and geographic regional difference in the distribution of inhabitants and also to the small size of the SCA population we have so far investigated. In addition, 2 of the 3 genetically identified DRPLA in this study were not clinically diagnosed, and one of them was thought to be sporadic. Late onset DRPLA may thus be misdiagnosed to other disease categories, when dementia was not apparent at the time of onset.