皮层下动脉硬化性脑病的早期诊断

目的研究皮层下动脉硬化性脑病（SAE）的临床及影像学特点，对其作出早期诊断及早期干预，提高患者生活质量。方法追踪108例高血压合并高血压合并多发性腔隙性脑梗死患者5年后症状、体征和头颅CT、MRI的变化。结果88例（81．5％）病例出现锥体束损害、假性球麻痹、感知行为异常、痴呆等皮层下动脉硬化性脑病临床表现，78例（72.2％）患者出现典型的（Ⅲ型）Binswanger病的影像学改变。结论皮层下动脉硬化性脑病为颅内小动脉硬化慢性病程的最终结局。头颅CT、MRI的影像学改变早于临床症状的出现，为临床早期药物干预提供有力依据。     

显性遗传性脑血管病伴皮层下梗死和白质脑病

显性遗传性脑血管病伴皮层下梗死和白质脑病 (cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy ,CADASIL)是 1993年Tournier Lasserve等人提出的一个新的脑血管病诊断名称[1] ,用于取代 1977年Sourander[2、3 ] 以及其他作者报道的遗传性多发性脑梗死性痴呆和此后其他研究者提出的慢性家族性血管性脑病、家族性皮层下痴呆伴动脉性白质脑病、家族性疾病伴皮层下缺血发作和白质脑病以及家族性Binswanger病。此病具有显性遗传的特点 ,临床表现为偏头痛、中年出现反复发作性脑梗死导致假性球麻痹以及…     

亚急性病毒性脑炎的早期MRI表现

目的探讨亚急性病毒性脑炎患者的早期MRI表现,提高认识水平及诊断水平,改善患者预后。方法对17例经临床综合确诊为亚急性病毒性脑炎患者的早期MRI表现进行回顾性分析。结果17例亚急性病毒性脑炎患者中16例脑部MRI有异常表现,其中15例为多发,1例为单发。MRI表现：（1）病变分布：16例均有皮层脑质受累,分别为局限于脑皮质者2例,皮质及皮质下白质均受累者14例,伴半卵圆中心区多发性病灶者3例;（2）病变形态：病变皮层脑质肿胀呈脑回样或点片状异常信号者6例,皮质及皮质下白质区同时受累融合呈斑片状异常信号者9例,半卵圆中心区腔隙性病灶呈串珠样分布者2例;皮质及皮质下白质融合呈大片状异常信号者1例;（3）病变信号：所有病例在DWI像上均呈异常高信号,T2WI及FLAIR序列呈略高或高信号,T1WI呈等或低信号;（4）增强扫描：6例行增强扫描均无异常强化。结论亚急性病毒性脑炎的早期MRI表现具有一定特征性,根据病变分布、形态及信号等特点,结合临床容易做出准确诊断。     

肾病相关性可逆性后部白质脑病的护理

可逆性后部白质脑病（reversibleposterioren—cephalopathysyndrome,RPES）是指主要以大脑后循环区（枕叶、脑干、小脑）白质发生血管源性水肿为特点的一类神经系统综合征,临床主要以头痛、癫痫或癫痫持续状态、意识改变、皮层盲为主要表现。     

CADASIL的临床影像分析

目的:分析CADASIL的临床及影像学表现。方法:回顾性分析我院基因检测诊断为CADASIL的患者11例,分析其临床及影像特点。结果:患者平均发病年龄为46岁,无血管疾病危险因素10例,MRI病变基本呈双侧对称分布,7例出现对称的颞极白质病变,8例白质病变累及外囊,6例出现胼胝体梗死,7例出现脑干梗死。结论:中青年发病,有阳性家族史,无脑血管疾病危险因素的脑缺血性卒中患者,结合典型影像特点,排除其它白质病变及血管病变,辅助基因检测及皮肤、周围血管活检结果可诊断CADASIL。     

可逆性后部白质脑病综合征CT和MRI影像学特点分析

目的:探讨可逆性后部白质脑病综合征(reversible posterior leukoencephalopathy syndrome,RPLS)CT和MRI影像学特点.方法:回顾性分析9例RPLS患者的临床及CT和MRI影像学资料.结果:MRI显示6例双侧对称性枕叶白质受累,其中4例双侧额叶顶叶白质受累,1例同时累及中脑和丘脑,1例累及尾状核头;病灶形态不规则,特征表现为皮质及皮质下白质脑回样异常信号.CT显示枕叶低密度影,其中2例广泛脑白质水肿.治疗5～20 d复查,6例病灶部分消失,1例完全消失,2例出现转化灶.结论:结合临床特点和后部脑白质损害为主的影像学表现,有助于RPLS的诊断.     

伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病患者软脑膜脑动脉管壁特点的研究

目的：观察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( CADASIL)患者软脑膜动脉管壁结构及血管弹性指数的变化。方法对6例有基因突变的CADASIL患者组成的观察组的额叶、颞叶皮层脑组织切片与对照组的脑组织切片进行penta-chrome染色,对所有切片内的软脑膜血管的内膜、中膜、外膜厚度、血管腔内径和外径进行测量,计算血管弹性指数( SI)。结果 CADASIL患者的软脑膜血管的内膜与对照组相比显著增厚(P<0.0001),中膜厚度与对照组相比明显变薄(P<0.01),外膜与对照组相比差别无显著性,CADASIL的血管腔内径与对照组相比并无狭窄,血管弹性指数SI与对照组相比显著增高(P<0.00001)。结论 CADASIL的软脑膜动脉的主要病理性改变是内膜显著增厚和中膜变薄,但血管内径无明显改变。     

低场MRI对皮层下动脉硬化性脑病的诊断价值

目的探讨皮层下动脉硬化性脑病低场MRI表现及诊断价值。方法回顾性分析32例经临床及低场磁共振检查确诊的皮层下动脉硬化性脑病患者,全部患者均进行常规T1WI、T2WI、FLAIR序列检查。结果 MRI表现为侧脑室前后角、体部周围、放射冠、半卵圆中心片状稍长T1、长T2异常信号,FLAIR序列病灶表现为高信号,其中Ⅰ型7例、Ⅱ型10例、Ⅲ型15例。可伴发脑萎缩或腔隙性脑梗塞,有的可伴发脑出血。结论 MRI是SAE首选影像学检查方法,低场MRI可用于SAE的诊断。     

CADASIL的影像学表现

目的：研究CADASIL的影像学表现。材料与方法：报告1家系7人中4人患病,介绍了先证者的5年间颅脑CT、MRI表现。结果：颅脑MRI见脑内多发性腔梗灶和脑白质变性,颞叶前部和外囊部病变明显,且随年龄增加而加重,同时伴有脑萎缩。结论：MRI结合临床表现和家族史可诊断本病。     

吸食海洛因所致海绵状白质脑病MRI表现（附4例报告）

目的：复习文献总结海洛因海绵状白质脑病MRI表现。材料与方法：搜集4例具有吸食海洛因史者的MR／资料,并对照文献。全部患者均进行MR／检查,检查序列包括T1WI、T2WI、FLAIR序列。结果：全部患者幕上半球脑白质、小脑半球、内囊后肢及膝部、胼胝体压部及膝部均见双侧、对称性异常改变。MRI均表现为T1WI呈低信号,T2WI及FLAIR序列为不均匀或均匀高信号。以小脑半球白质受累最为严重,但其灰质核团未见受累。结论：海洛因所致海绵状白质脑病具有典型的MRI表现,结合病史,MRI诊断具有特异性。     

CADASIL presenting as status migrainosus and persisting aura without infarction

Different types of migraine have been reported in 20–40% of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We describe a novel migrainous manifestation of CADASIL consisting in status migrainosus and persistent aura without infarction. The symptoms resolved after i.v. treatment with lorazepam and mannitol.     

CADASIL病

CADASIL(伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病 )的研究是近年来证实遗传因素参与脑血管病发病的重要进展之一 ,其主要临床特点为家族遗传方式起病、中年发病、逐渐进展的缺血性脑卒中样病程、假性球麻痹、进行性血管性痴呆、先兆症状的偏头痛发作和精神症状。脑内广泛多发的白质灶、明确的MRI白质异常信号以及病理学明确的小动脉病变是本病的基本特征。分子遗传学研究发现 19号染色体Notch3基因突变与本病有关     

变性高压液相色谱分析在中国家族性CADASIL患者基因筛查中的应用

目的:探讨变性高压液相色谱分析(DHPLC)在伴皮质下梗死及白质脑病的常染色体显性遗传性脑动脉病(CADASIL)患者诊断中的方法和价值。方法:运用DHPLC及DNA直接测序技术,对CADASIL家系先证者、家系成员14例(CADASIL组)及健康对照者100例(对照组)进行Notch3基因检测。结果:CADASIL组发现3种致病性突变,其中Cys134Tyr为新的突变类型,同时发现15种多态类型;对照组中未发现突变。结论:DHPLC技术在筛查Notch3中起重要作用,但在筛查时应进行多个柱温的测试,温度调换以2℃为宜。     

Migraine and white matter hyperintensities

Patients with migraine are at increased risk for white matter hyperintensities detected on magnetic resonance imaging. The presence of nonspecific white matter hyperintensities may cause uncertainty for physicians and anxiety for patients. The pathophysiology and long-term consequences of these lesions are unknown. Occasionally, white matter lesions in a migraineur may indicate an underlying disease such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS), or central nervous system vasculitis. The ability to distinguish between nonspecific and disease-specific patterns of white matter hyperintensities in migraine sufferers is important for the practicing clinician.     

CADASIL: Imaging Characteristics and Clinical Correlation

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene located on chromosome 19p13. CADASIL causes a clinical syndrome of migraines (frequently with aura), progressive strokes, and cognitive decline in adults leading to severe functional impairment by the seventh decade of life. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on history and a characteristic pattern of confluent subcortical white matter disease in the anterior temporal poles and external capsule. Additional abnormalities include cerebral microbleeds and large vessel stenosis, particularly in Asian populations. Familiarity with radiologic findings in CADASIL is essential to the correct diagnosis and subsequent management of this disease.     

Diagnostic criteria for CADASIL in the International Classification of Headache Disorders (ICHD-II): are they appropriate?

We reviewed the characteristics of headache in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to verify the appropriateness of the International Classification of Headache Disorders, second edition (ICHD-II) criteria. Available data were found through Medline/PubMed using the keyword “cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)”. The search was restricted to studies published in English in the years between 1993 and 2008. We excluded studies that did not report original data on CADASIL and information regarding the presence of headache. We found 34 studies reporting data on 749 patients overall; 387 (51.7%) patients had headache. According to the authors’ definition, 356 (92%) patients were reported as having migraine and 31 (8%) as having headache. Of the 356 patients who were defined as migraineurs, 125 (35.1%) had migraine with aura, 7 (2%) migraine without aura, 156 (43.8%) unspecified migraine and 68 (19.1%) had more than one type of migraine. Among the 31 patients reported as suffering from headache, the headache was not further detailed in 18 (58.1%) patients; it was defined as chronic in 6 (19.3%), as resembling migraine with aura in 4 (12.9%), as resembling migraine without aura in 2 (6.5%) and as tension type in 1 (3.2%) patient. In patients with CADASIL, the headache was usually referred to as migraine and mostly as migraine with aura. However, this referral is formally incorrect since the diagnostic criteria for any type of migraine in the ICHD-II require that the disturbance is not attributed to another disorder. For this reason, we suggest updating the ICHD-II in relation to CADASIL. Our suggestion is to insert a new category referred to as Headache attributed to genetic disorder including Headache attributed to CADASIL.     

Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study

Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exons 3 and 4 are mutation hotspots. Migraine is a clinical hallmark of CADASIL. The objective of this study was to investigate whether genetic variants in exons 3 and 4 of the NOTCH3 gene are associated with migraine. Exons 3 and 4 of the NOTCH3 were analysed for mutations and polymorphisms by direct DNA sequencing in 97 migraineurs and the same number of control individuals. No mutations in exons 3 and 4 of the NOTCH3 gene were found in 97 patients with migraine. However, association analysis revealed significant association of the single nucleotide polymorphism (SNP) rs1043994 with migraine.     

Genetics of cerebrovascular disorders

Physicians must be able to recognize stroke caused by a mendelian or mitochondrial disorder. Some genetic disorders such as sickle cell anemia and Fabry disease have proven disease-specific treatments, whereas others have no effective treatment, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Proper diagnosis of a genetic disorder has prognostic value and prevents patient exposure to unnecessary and potentially harmful therapeutic agents and diagnostic tests. This article reviews the clinical and genetic features of some mendellan and mitochondrial disorders associated with ischemic stroke, hemorrhagic stroke, and cerebrovascular malformations.     

CADASIL伴脑出血的临床和基因分析:3例报告

目的:评估常染色体显性遗传性皮质下梗死和白质脑病(CADASIL)伴脑出血(ICH)的临床表现、影像学和基因特征。方法:CADASIL伴ICH患者3例,在Pubmed数据库纳入另外25例有详细资料的患者,评估出血性CADASIL的临床表现、影像学特征和基因突变特点。结果:共纳入患者28例,男19例、女9例,平均年龄(54.2±13.4)岁。高血压病是最常见的危险因素(18例,64.3%),50%的患者曾接受抗栓治疗。10例患者以ICH为首发表现,最常见的出血部位是基底节和脑叶。11号外显子R544C位点是最常见的突变位点(46.2%)。18例患者(64.3%)发现数量不等的微出血灶。结论:CADASIL可发生ICH且可能是首发临床表现。严格控制高血压和谨慎使用抗血栓药可能有助于防止CADASIL患者发生ICH。     

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease

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.