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首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation
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A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation

机译：一种新的HTRA1纯合突变引起的白细胞病变和小血管疾病的情况

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摘要

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a heritable, rare small vessel disease, which is caused by HTRA1 mutations and mostly reported Japanese and Chinese population. CARASIL is an orphan disease, which presents with progressive motor and cognitive impairment, alopecia, and spondylosis. The disease typically starts with lumbago at early twenties. Ischemic strokes start at mid-twenties. Patients have no cardiovascular or any other risk factors. Multiple lacunar infarcts and leukoencephalopathy cause progressive neurologic involvement. Leukoencephalopathy and small vessel disease without any risk factors is a significant finding for the differential diagnosis of HTRA1 gene pathology. This report presents clinical and genetic features of a rare case of typical CARASIL from Turkey who was followed with uncertain diagnoses for years.
机译：脑常染色体隐性动脉与皮下梗死和白细胞病（Carasil）是一种遗传，罕见的小血管疾病，由HTRA1突变引起，主要报道日本和中国人口。 Carasil是一种孤儿疾病，呈现出渐进式电机和认知障碍，脱发和脊柱化。 这种疾病通常在二十年代初开始于腰部。 缺血笔画从二十多次开始。 患者没有心血管或任何其他风险因素。 多腔隙梗塞和白细胞病导致渐进式神经系统参与。 没有任何风险因素的白细胞病变和小血管疾病是对HTRA1基因病理的差异诊断的重要发现。 本报告提出了来自土耳其典型克拉西的临床和遗传特征，随后是不确定的诊断。

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