Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 (CADASIL1)

伴皮质下梗死和脑白质病性常染色体显性脑动脉病1型(来自ICD-11)

别称:

Cadasil

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Hereditary Multi-Infarct Dementia

Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Familial Vascular Leukoencephalopathy

Cadasil Syndrome

Cadasil 1

Cadasil1

Casil

Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Type 1

Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 1

Arteriopathy, Cerebral, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy

Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts Leukoencephalopathy

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopath

Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1

Hereditary Dementia, Multi-Infarct Type

Dementia, Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Dementia Hereditary Multiinfarct Type

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

大脑动脉病，常染色体显性，伴有皮质下梗死和白质脑病，类型1，也称为CADASIL，与大脑小血管病1和大脑动脉病，常染色体显性，伴有皮质下梗死和白质脑病，类型2有关。与大脑动脉病，常染色体显性，伴有皮质下梗死和白质脑病，类型1有关的重要基因是NOTCH3（Notch受体3），其相关通路/超级通路包括信号转导和PAK通路。在该疾病的背景下，已提到的药物有达比加群和多奈哌齐。相关组织包括平滑肌和大脑，相关表型为白质脑病和异常大脑白质形态。

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