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1.
正可逆性后部白质脑病综合征(reversible posterior leukoencephalopathy syndrome,RPLS)是一组由多种原因引起的临床综合征,典型的病变部位为大脑后部白质。非典型的RPLS极易漏诊和误诊。现报道1例疑似为伴皮质下梗死和白质脑病的常染色体隐性遗传脑动脉病(CARASIL)的RPLS,并进行文献分析。  相似文献   

2.
常染色体显性遗传性动脉病伴皮层下梗死与白质脑病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变导致的遗传性动脉疾病,临床表型有许多异变性,其中偏头痛多出现在CADASIL病程早期,是最常见的临床特征。两者的发病有一定的相关性,其发病机制尚不清楚。目前研究认为血管平滑肌细胞变性,脑血流量和血管反应性下降,敏感性基因DNA突变,以及对皮层传播性抑制(coritcal spreading depression,CSD)易感性增加及共享的遗传因素是可能的发病机制。  相似文献   

3.
本文报道橄榄桥脑小脑萎缩症(OPCA)一个家系,4代50人中共有患者16人,属常染色体显性遗传。发病年龄22~45岁,平均36岁。病程进展缓慢,1例用胞二磷胆碱治疗12天,短期疗效尚可,停药2月后症状又加重。  相似文献   

4.
肥厚型心肌病的诊断和治疗进展   总被引:2,自引:1,他引:1  
王彬尧  王长谦  郑道声 《新医学》2000,31(7):394-394
1 引 言 本病的确切病因迄今仍未十分明确,有报道是遗传性疾病,亦有报道本病人群中人类白细胞抗原(DW4、B4、A9、B5、B40)的基因频率增加,故提出基因缺陷的假说。还有人提出本病与原位癌基因表达异常、钙调节异常等有关。研究取得较大进展的为家族性肥厚型心肌病,运用分子生物学和基因诊断方法,现已明确家族性肥厚型心肌病是一种常染色体显性遗传,其致病基因为14号染色体长臂上的β-肌凝蛋白重链的缺陷,至少有两个β-肌凝蛋白重链的基因位点突变与家族性肥厚型心肌病发病有关。2 肥厚型心肌病的分型 根据病理…  相似文献   

5.
肝豆状核变性又称威尔逊病,是一种遗传性铜代谢异常的疾病,临床比较少见。其特点是铜沉积在肝、脑、肾、角膜等组织,由此引起一系列的临床症状。自1912年英国Wilson对本病做了经典的描述以来,本病的遗传特点、发病机制、临床特征、病理变化、早期诊断、症状前DNA诊断、祛铜治疗等方面的研究都取得了很大的进展。现已证明该病是完全可以治疗的。本病在我国各地均有报道,但由于各地医疗条件、技术水平参差不齐,仍有部分病人被误诊而得不到及时治疗。兹附2例报告如下。  相似文献   

6.
肝豆状核变性又称Wilson病(WD),是一种常染色体隐性遗传铜代谢障碍性疾病,致病基因(ATP7B基因)定位并克隆于13号染色体长臂染色体(13q14-q21)[1],ATP7B基因突变导致机体铜代谢异常,过量的铜沉积在肝脏和脑等组织中,引起不同程度的肝脏损伤和神经功能障碍。由于本病发病隐匿,侵及多组织器官,临床症状多样、不典型,不易早期诊断,易造成误诊、漏诊。现将我院2001年1月—2010年1月收治的45例WD患者的临床资料进行分析,以加深对该病的认识。  相似文献   

7.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy,CADASIL)是一种中年发病的、非动脉硬化性、遗传性小动脉脑血管病,其发病与19号染色体上Notch3基因突变有关。其典型临床表现包括先兆偏头痛、短暂性脑缺血发作和缺血性卒中、进行性认知功能障碍、精神症状,少见的临床特征包括脑出血、癫痫发作、帕金森综合征和脊髓症状。该病的诊断主要依靠典型的临床表现及影像学检查,皮肤或周围血管活检发现嗜锇颗粒(GOM)沉积或遗传学发现NOTCH3基因突变有助该病诊断。  相似文献   

8.
Huntington病5个家系的临床特征及文献复习   总被引:1,自引:0,他引:1  
目的 了解Huntington病的临床特点和治疗。方法 分析5个典型家系的临床特征。经文献复习,介绍本病的治疗进展。结果 5个家系呈常染色体显性遗传,均为成人型,逐渐进展的运动障碍,认知衰退和精神障碍是主要临床症状,在疾病的早期,常表现为轻微的情感症状和轻微的不自主运动。舞蹈症是就诊的原因,CT显示脑萎缩。结论 典型的临床表现和明确的家族史可作出初步临床诊断,对危险人群进行神经心理筛查有助于早期诊断,基因检查可以帮助确诊。药物、职业作业疗法和心理综合治疗可以使患者保持最好的功能。从而可提高生活质量。  相似文献   

9.
可逆性后部白质脑病(reversible posterior leukoencephalopath syndrome,RPLS)是一种少见的临床综合征。临床以迅速出现的头痛、精神异常、意识障碍、癫痫发作、视觉障碍等为主要表现。病因多样,脑高灌注及血管内皮损伤为其主要发病机制。影像学主要表现为双侧大脑半球后部脑白质弥漫性对称性水肿。脑血管源性水肿为其主要病理特征。故本病大多数是可逆的,经及时正确的治疗,临床症状及影像改变可以完全恢复。如治疗不及时,可造成神经细胞的不可逆性损害。探讨RPLS的病因、发病、临床表现、病理、影像学以及诊治等方面进展,旨在提高对RPLS的认识。  相似文献   

10.
家族性Fahr病2例并文献复习   总被引:2,自引:0,他引:2  
目的 :认识少见的家族性 Fahr病 ,提高对其临床表现、遗传特点、CT表现的认识。方法 :采用回顾性研究方法 ,报告 1家系 2代中 2例 Fahr病临床表现及客观检查资料。结果 :显示本病以智能障碍、言语困难、共济失调、锥体束征及锥体外系症状为主要表现 ,病程缓慢进展。头颅 CT示两侧对称基底节区钙化 ,MRI示无异常信号。钙化的轻重与临床表现出现的早晚成正相关。结论 :Fahr病有明显家族遗传性 ,为特发脑内钙化 ,轻者钙化局限于基底节 ,无临床症状 ,易被漏诊。在血钙、磷代谢无异常的情况下 ,家族随访至关重要 ,CT检查是明确诊断 Fahr病的重要依据。本病的临床症状与钙化部位、程度等因素有关 ,诊断本病仍主要依靠头颅 CT。  相似文献   

11.
Epidemiology of white matter lesions   总被引:1,自引:0,他引:1  
This is an overview of the prevalence of, and risk factors for white matter lesions in older persons. The prevalence of white matter lesions is high and increases with age. Most risk factors that have been examined in association with white matter lesions are similar to those for cardiovascular disease, including elevated blood pressure, diabetes atherosclerosis, homocysteine levels, and markers of oxidative stress. The genetic contributions to white matter lesions are also reviewed.  相似文献   

12.
Cerebral ischemic small vessel disease (SVD) is the leading cause of vascular dementia and a major contributor to stroke in humans. Dominant mutations in NOTCH3 cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic archetype of cerebral ischemic SVD. Progress toward understanding the pathogenesis of this disease and developing effective therapies has been hampered by the lack of a good animal model. Here, we report the development of a mouse model for CADASIL via the introduction of a CADASIL-causing Notch3 point mutation into a large P1-derived artificial chromosome (PAC). In vivo expression of the mutated PAC transgene in the mouse reproduced the endogenous Notch3 expression pattern and main pathological features of CADASIL, including Notch3 extracellular domain aggregates and granular osmiophilic material (GOM) deposits in brain vessels, progressive white matter damage, and reduced cerebral blood flow. Mutant mice displayed attenuated myogenic responses and reduced caliber of brain arteries as well as impaired cerebrovascular autoregulation and functional hyperemia. Further, we identified a substantial reduction of white matter capillary density. These neuropathological changes occurred in the absence of either histologically detectable alterations in cerebral artery structure or blood-brain barrier breakdown. These studies provide in vivo evidence for cerebrovascular dysfunction and microcirculatory failure as key contributors to hypoperfusion and white matter damage in this genetic model of ischemic SVD.  相似文献   

13.
Cerebral atrophy has been described to occur in systemic lupus erythematosus (SLE) with variable frequency. The aim of this study was to determine white and gray matter abnormalities in brain magnetic resonance imaging (MRI) of patients with SLE and to determine if these abnormalities progress over a one-year period. Seventy-five patients with SLE and 44 healthy age and sex-matched controls were enrolled in this study. T1-weighted volumetric images were used for voxel based morphometry (VBM) analyses. SLE patients exhibited a significant reduction in white matter and gray matter volume compared to controls (p=0.001). Follow-up images, after an average interval of 19 months, revealed a progressive white matter and gray matter atrophy (p=0.001). Reduced white and gray matter volume was associated with disease duration and the presence of antiphospholipid antibodies. Patients with severe cognitive impairment had a more pronounced white and gray matter reduction than patients with moderate cognitive impairment. Total corticosteroid dose was associated with gray matter reduction and not with white matter loss in SLE patients. We concluded that brain tissue loss associated with SLE is significant and progresses over a relatively short period of time. Disease duration, the presence of antiphospholipid antibodies and cognitive impairment were associated with white and gray matter loss. Corticosteroid was associated only with gray matter atrophy.  相似文献   

14.
Menkes' steely-hair disease is characterized by abnormal copper metabolism accompanying progressive cerebral degeneration. Cerebral lipids and proteins of an infantile male patient with Menkes' disease were analyzed. The major lipid components in myelin, which included free cholesterol, phospholipids, galactosylceramide, sulfatide, and GM4 ganglioside were markedly decreased, indicating that the myelin was severely damaged by the defective copper metabolism. The degeneration of the myelin was also indicated by decrease in myelin basic protein and proteolipid protein, whereas gliosis in the white matter was biochemically confirmed by prominent increase in glial fibrillary acidic protein. Fatty acid analyses of phospholipids in the white matter revealed that the unsaturated fatty acids were severely decreased in phosphatidylethanolamine, phosphatidylcholine, and phosphatidylserine, and that the long chain fatty acids were also decreased in sphingomyelin. As both the desaturation of fatty acids in glycerophospholipids and the elongation of fatty acids in sphingomyelin are in general thought as markers for myelination, the results suggest that the progressive cerebral degeneration in the disease is due to dysmyelination rather than demyelination. The dysmyelination seemed to be supported by the fact that cholesterol ester which is thought as a marker for demyelination, showed no increase in the brain.  相似文献   

15.
Global gray matter brain tissue volume decreases in schizophrenia have been associated to disease-related (possibly nongenetic) factors. Global white matter brain tissue volume decreases were related to genetic risk factors for the disease. However, which focal gray and white matter brain regions best reflect the genetic and environmental risk factors in the brains of patients with schizophrenia remains unresolved. 1.5-T MRI brain scans of 11 monozygotic and 11 same-sex dizygotic twin-pairs discordant for schizophrenia were compared to 11 monozygotic and 11 same-sex dizygotic healthy control twin-pairs using voxel-based morphometry. Linear regression analysis was done in each voxel for the average and difference in gray and white matter density separately, in each twin-pair, with group (discordant, healthy) and zygosity (monozygotic, dizygotic) as between subject variables, and age, sex and handedness as covariates. The t-maps (critical threshold value mid R:tmid R: > 6.0, P < 0.05) revealed a focal decrease in gray matter density accompanied by a focal increase in white matter density in the left medial orbitofrontal gyrus and a focal decrease in white matter density in the left sensory motor gyrus in twin-pairs discordant for schizophrenia as compared to healthy twin-pairs. Focal changes in left medial (orbito)frontal and left sensory motor gyri may reflect the increased genetic risk to develop schizophrenia. Focal changes in the left anterior hemisphere may therefore be particularly relevant as endophenotype in genetic studies of schizophrenia.  相似文献   

16.
Duchenne muscular dystrophy (DMD) is an X‐linked muscle disorder characterized by progressive and irreversible loss of muscular function. As muscular disease progresses, the repair mechanisms cannot compensate for cellular damage, leading inevitably to necrosis and progressive replacement by fibrous and fatty tissue. Cardiomyopathy and respiratory failure are the main causes of death in DMD. In addition to the well‐described muscle and heart disease, cognitive dysfunction affects around 30% of DMD boys. Myocardial fibrosis, assessed by late gadolinium enhancement (LGE), using cardiovascular magnetic resonance imaging (CMR), is an early marker of heart involvement in both DMD patients and female carriers. In parallel, brain MRI identifies smaller total brain volume, smaller grey matter volume, lower white matter fractional anisotropy and higher white matter radial diffusivity in DMD patients. The in vivo brain evaluation of mdx mice, a surrogate animal model of DMD, showed an increased inorganic phosphate (P(i))/phosphocreatine (PCr) and pH. In this paper, we propose a holistic approach using techniques of magnetic resonance imaging, spectroscopy and diffusion tensor imaging as a tool to create a “heart and brain imaging map” in DMD patients that could potentially facilitate the patients’ risk stratification and also future research studies in the field.  相似文献   

17.
Despite the availability of highly active antiretroviral therapy (HAART) for the treatment of human immunodeficiency virus (HIV) infection, there has not been a dramatic decrease in the frequency of progressive multifocal leukoencephalopathy (PML) in the HIV-infected population. Usually a multifocal progressive disease of nonenhancing lesions in white matter, PML can have distinct characteristics in HIV-infected patients, including unifocal static lesions of faint contrast enhancement on imaging and involvement of gray matter. A syndrome of cerebellar degeneration has been described in association with HIV infection in patients positive for JC virus, the papovavirus responsible for PML. The standard of care for HIV-associated PML is HAART to achieve immunologic recovery and optimal HIV virologic control. The prognosis of PML has improved greatly since the advent of HAART.  相似文献   

18.
Diffusion magnetic resonance imaging is increasingly used as a non-invasive method to investigate white matter structure in neurological and neuropsychiatric disease. However, many options are available for the acquisition sequence and analysis method. Here we used Parkinson's disease as a model neurodegenerative disorder to compare imaging protocols and analysis options. We investigated fractional anisotropy and mean diffusivity of white matter in patients and age-matched controls, comparing two datasets acquired with different imaging protocols. One protocol prioritised the number of b value acquisitions, whilst the other prioritised the number of gradient directions. The dataset with more gradient directions was more sensitive to reductions in fractional anisotropy in Parkinson's disease, whilst the dataset with more b values was more sensitive to increases in mean diffusivity. Moreover, the areas of reduced fractional anisotropy were highly similar to areas of increased mean diffusivity in PD patients. Next, we compared two widely used analysis methods: tract-based spatial statistics identified reduced fractional anisotropy and increased mean diffusivity in Parkinson's disease in many of the major white matter tracts in the frontal and parietal lobes. Voxel-based analyses were less sensitive, with similar patterns of white matter pathology observed only at liberal statistical thresholds. We also used tract-based spatial statistics to identify correlations between a test of executive function (phonemic fluency), fractional anisotropy and mean diffusivity in prefrontal white matter in both Parkinson's disease patients and controls. These findings suggest that in Parkinson's disease there is widespread pathology of cerebral white matter, and furthermore, pathological white matter in the frontal lobe may be associated with executive dysfunction. Diffusion imaging protocols that prioritised the number of directions versus the number of b values were differentially sensitive to alternative markers of white matter pathology, such as fractional anisotropy and mean diffusivity.  相似文献   

19.
Leukodystrophies: clinical and genetic aspects   总被引:1,自引:0,他引:1  
The leukodystrophies comprise an ever-expanding group of rare central nervous system disorders with defined clinical, pathological, and genetic characteristics. The broader term, leukoencephalopathy, is applied to all brain white matter diseases, whether their molecular cause is known. Magnetic resonance imaging has helped to elucidate new forms of leukodystrophy as well as to permit longitudinal studies of disease progression. The white matter abnormality may appear similar in different forms of leukodystrophy so that in most cases, further studies such as magnetic resonance spectroscopy, tissue biopsies, enzyme studies, and molecular DNA analyses are needed to pinpoint the specific diagnosis. The primary inherited leukoencephalopathies include dysmyelinating, hypomyelinative, and vacuolating forms. Metabolic and vascular causes account for most of the secondary forms, but other inherited syndromes are recognized that have their onset in childhood or adult life and are characterized by distinctive clinical and neuropathologic features. This review discusses some of the mechanisms that have been proposed to explain deficiencies of myelin and the molecular genetic bases underlying these disorders.  相似文献   

20.
Diffusion tensor imaging plays a key role in our understanding of white matter both in normal populations and in populations with brain disorders. Existing techniques focus primarily on using diffusivity-based quantities derived from diffusion tensor as surrogate measures of microstructural tissue properties of white matter. In this paper, we describe a novel tract-specific framework that enables the examination of white matter morphometry at both the macroscopic and microscopic scales. The framework leverages the skeleton-based modeling of sheet-like white matter fasciculi using the continuous medial representation, which gives a natural definition of thickness and supports its comparison across subjects. The thickness measure provides a macroscopic characterization of white matter fasciculi that complements existing analysis of microstructural features. The utility of the framework is demonstrated in quantifying white matter atrophy in Amyotrophic Lateral Sclerosis, a severe neurodegenerative disease of motor neurons. We show that, compared to using microscopic features alone, combining the macroscopic and microscopic features gives a more complete characterization of the disease.  相似文献   

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