组织蛋白酶A相关动脉病-脑卒中-脑白质病
CARASAL
ORPHA:575553疾病
定义 英文原文（暂无中文）
A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.
别名
CARASAL
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CTSA | cathepsin A | Disease-causing germline mutation(s) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）