The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoenceph...The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive deficits. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes, in particular the pons. In addition, multiple cerebral infarction was identified in the proband. Sural nerve biopsy findings of the proband revealed granular osmophilic material deposits in the extracellular matrix, which were adjacent to smooth muscle cells of dermal arterioles. Screening exons 2-4 for NOTCH 3 mutations by direct sequencing did not reveal any abnormalities.展开更多
Background： Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） is a hereditar5 small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imag...Background： Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） is a hereditar5 small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography （EDI-OCT） to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging （MPRI） findings. Methods： Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First ttospital from January 2015 to August 2016. All patients underwent 7T-MRI of the brain. Fazekas score, number of small infarcts and microblecds were evaluated. All patients and controls underwent EDI-OCT to measure subtbveal choroidal thickness （SFCT）, inner and outer diameters as well as arterial and venous wall thickness, and arterial venous ratio of the inner （AVRin） and outer diameters （AVRout）. The relation between retinal vessel changes and Fazekas scores, numbers of small infarcts, or microbleeds was analyzed. Paired t-test was used to compare the SFCT and retinal vessel measurement data between patients and controls. Spearman＇s correlation was used to investigmc the correlation between retinal vessel changes and MRI lesions. Results： In CADASI L patients, mean SFCT （268.37 ± 46.50 μm） and mean arterial inner diameter （93.46 ± 9.70 gin） were signilicantly lower than that in controls （P 〈 0.00 ）, P = 0.048, respectively）. Mean arterial outer diameter （ 131.74 ± 10.87 μm）, venous inner （ 128.99 ± 13.62 μm） and outer diameter （ 164.82 ±14.77 μm）, and mean arterial （ 19.13 ±1.85 μm） and venous （ 17.91 ±2.76 μm） wall thickness were significantly higher than that in controls （P = 0.023, P 0.004, P 〈 0.001, P 〈 0.001, respectively）. Arterial inner diameter （r= - 0.39, P 0.044）] AVRin （r -0.65, P 〈 0.001）, and AVR,, （r =0.56, P - 0.002） showed a negative correlation with the number of small infarcts. Venous inner diameter （rs=0.46, P= 0.016） showed a positive correlation with the number of small infarcts. Venous inner diameter （r 0.59, P = 0.002）, outer diameter （rs=0.47, P= 0.017）, showed a positive correlation with the number of cerebral microbleeds （CM Bs）. AVRin （r =0.52, P = 0.007） and AVRout （r = -0.40, P =0.048） showed a negative correlation with the number of CMBs. Conclusions： Measurement of retinal vessels using EDI-OCT correlates moderately well with MRI parameters. EDI-OCT might bc a useful evaluation tool for CADASIL patients.展开更多
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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累...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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累及大脑皮质和颅内大/中动脉的报道较罕见,目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例,并结合文献进行讨论,旨在引起临床医师对CADASIL可累及大脑皮质和颅内大/中动脉的重视。展开更多
脑小血管病(cerebral small vessel disease,CSVD)是导致卒中和痴呆的常见原因。而除了常见的小动脉硬化性脑小血管病,非动脉硬化性脑小血管病的防治也不容忽视,目前这类疾病尚缺乏特异的治疗药物,且机制未明、异质性较强,但临床对症治...脑小血管病(cerebral small vessel disease,CSVD)是导致卒中和痴呆的常见原因。而除了常见的小动脉硬化性脑小血管病,非动脉硬化性脑小血管病的防治也不容忽视,目前这类疾病尚缺乏特异的治疗药物,且机制未明、异质性较强,但临床对症治疗方面已有部分证据,在深入挖掘机制的同时也探索出潜在疗法。现旨在对该领域治疗进展予以综述。展开更多
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 subcortical infarcts and leukoencephalopathy,CADASIL)是一种由NOTCH3基因突变引起的遗传性脑小血管疾病,主要影响中年人,其...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 subcortical infarcts and leukoencephalopathy,CADASIL)是一种由NOTCH3基因突变引起的遗传性脑小血管疾病,主要影响中年人,其症状包括偏头痛、短暂性缺血发作、认知障碍和精神障碍。该病的病程呈渐进性,最终可导致严重残疾和痴呆。本文分析了1例CADASIL家族系的临床表现和影像学特征,并对相关文献进行了回顾,以增加对CADASIL诊断和鉴别诊断的了解。展开更多
目的分析常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(cerebral autosomal dominant ar-teriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)患者的弥散张量成像特点及与临床的关系。方法患者和同龄健康志...目的分析常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(cerebral autosomal dominant ar-teriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)患者的弥散张量成像特点及与临床的关系。方法患者和同龄健康志愿者各14例,进行头颅MRI常规扫描和弥散张量成像扫描,测量两组受试者各脑叶、内囊后肢、外囊以及胼胝体的部分各向异性(fractional anisotropy,FA)值及总和,比较两组间FA值的差异。对患者的认知功能和卒中后神经功能状态分别进行MMSE和NIHSS评分。校正年龄影响,分析患者各个脑白质区域FA值及总和与MMSE分值、NIHSS评分的相关关系。结果患者组各脑区的FA值均显著低于对照组。FA值总和、右额叶、右颞叶、左顶叶、左枕叶、双侧内囊后肢以及外囊白质的FA值和MMSE分值存在相关性(P<0.05)。FA值总和及各脑区FA值与NIHSS评分无相关性。结论CADASIL患者不同脑白质区域的FA值显著下降,部分区域的白质损害与患者的认知功能减退有关。展开更多
目的探讨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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)的临床、影像学特点和基因突变类型。方法收集非家系CADASIL患者...目的探讨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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)的临床、影像学特点和基因突变类型。方法收集非家系CADASIL患者,对其颅脑磁共振成像(magnetic resonance imaging,MRI)特点、临床表现和基因检测结果进行回顾性分析。结果本研究共收录11例患者,其中患有头痛者5例(45.45%)、记忆力下降者5例(45.45%)。11例患者均进行了MRI检查,有脑干损害的患者7例(63.63%),其中脑干损害患者全部存在脑桥病变。进行心理评测的7例患者中存在焦虑和(或)抑郁的患者有4例(57.14%)。5例患者进行了基因检测,其中4例(80%)为Notch3基因外显子4位点突变,1例(20%)为Notch3基因外显子3位点突变。结论头痛是CADASIL患者的重要临床特点;脑桥是CADASIL患者常见的脑干受累部位。展开更多
基金supported by the Beijing Municipal Education Commission Science and Technology Development Project, No. KM200910025015
文摘The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive deficits. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes, in particular the pons. In addition, multiple cerebral infarction was identified in the proband. Sural nerve biopsy findings of the proband revealed granular osmophilic material deposits in the extracellular matrix, which were adjacent to smooth muscle cells of dermal arterioles. Screening exons 2-4 for NOTCH 3 mutations by direct sequencing did not reveal any abnormalities.
基金This study was supported by grants from the National Key Research and Development Program of China （No. 2016YFC1300600）, National Natural Science Foundation of China （No. 81471185）, and National Science and Technology Major Project （No. 2011 ZX09307-001-07）.
文摘Background： Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） is a hereditar5 small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography （EDI-OCT） to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging （MPRI） findings. Methods： Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First ttospital from January 2015 to August 2016. All patients underwent 7T-MRI of the brain. Fazekas score, number of small infarcts and microblecds were evaluated. All patients and controls underwent EDI-OCT to measure subtbveal choroidal thickness （SFCT）, inner and outer diameters as well as arterial and venous wall thickness, and arterial venous ratio of the inner （AVRin） and outer diameters （AVRout）. The relation between retinal vessel changes and Fazekas scores, numbers of small infarcts, or microbleeds was analyzed. Paired t-test was used to compare the SFCT and retinal vessel measurement data between patients and controls. Spearman＇s correlation was used to investigmc the correlation between retinal vessel changes and MRI lesions. Results： In CADASI L patients, mean SFCT （268.37 ± 46.50 μm） and mean arterial inner diameter （93.46 ± 9.70 gin） were signilicantly lower than that in controls （P 〈 0.00 ）, P = 0.048, respectively）. Mean arterial outer diameter （ 131.74 ± 10.87 μm）, venous inner （ 128.99 ± 13.62 μm） and outer diameter （ 164.82 ±14.77 μm）, and mean arterial （ 19.13 ±1.85 μm） and venous （ 17.91 ±2.76 μm） wall thickness were significantly higher than that in controls （P = 0.023, P 0.004, P 〈 0.001, P 〈 0.001, respectively）. Arterial inner diameter （r= - 0.39, P 0.044）] AVRin （r -0.65, P 〈 0.001）, and AVR,, （r =0.56, P - 0.002） showed a negative correlation with the number of small infarcts. Venous inner diameter （rs=0.46, P= 0.016） showed a positive correlation with the number of small infarcts. Venous inner diameter （r 0.59, P = 0.002）, outer diameter （rs=0.47, P= 0.017）, showed a positive correlation with the number of cerebral microbleeds （CM Bs）. AVRin （r =0.52, P = 0.007） and AVRout （r = -0.40, P =0.048） showed a negative correlation with the number of CMBs. Conclusions： Measurement of retinal vessels using EDI-OCT correlates moderately well with MRI parameters. EDI-OCT might bc a useful evaluation tool for CADASIL patients.
文摘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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累及大脑皮质和颅内大/中动脉的报道较罕见,目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例,并结合文献进行讨论,旨在引起临床医师对CADASIL可累及大脑皮质和颅内大/中动脉的重视。
文摘脑小血管病(cerebral small vessel disease,CSVD)是导致卒中和痴呆的常见原因。而除了常见的小动脉硬化性脑小血管病,非动脉硬化性脑小血管病的防治也不容忽视,目前这类疾病尚缺乏特异的治疗药物,且机制未明、异质性较强,但临床对症治疗方面已有部分证据,在深入挖掘机制的同时也探索出潜在疗法。现旨在对该领域治疗进展予以综述。
文摘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 subcortical infarcts and leukoencephalopathy,CADASIL)是一种由NOTCH3基因突变引起的遗传性脑小血管疾病,主要影响中年人,其症状包括偏头痛、短暂性缺血发作、认知障碍和精神障碍。该病的病程呈渐进性,最终可导致严重残疾和痴呆。本文分析了1例CADASIL家族系的临床表现和影像学特征,并对相关文献进行了回顾,以增加对CADASIL诊断和鉴别诊断的了解。
文摘目的分析常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(cerebral autosomal dominant ar-teriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)患者的弥散张量成像特点及与临床的关系。方法患者和同龄健康志愿者各14例,进行头颅MRI常规扫描和弥散张量成像扫描,测量两组受试者各脑叶、内囊后肢、外囊以及胼胝体的部分各向异性(fractional anisotropy,FA)值及总和,比较两组间FA值的差异。对患者的认知功能和卒中后神经功能状态分别进行MMSE和NIHSS评分。校正年龄影响,分析患者各个脑白质区域FA值及总和与MMSE分值、NIHSS评分的相关关系。结果患者组各脑区的FA值均显著低于对照组。FA值总和、右额叶、右颞叶、左顶叶、左枕叶、双侧内囊后肢以及外囊白质的FA值和MMSE分值存在相关性(P<0.05)。FA值总和及各脑区FA值与NIHSS评分无相关性。结论CADASIL患者不同脑白质区域的FA值显著下降,部分区域的白质损害与患者的认知功能减退有关。
