常染色体显性脑动脉病变伴皮质下梗死和脑白质病

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引用次数: 0

摘要

CADASIL是一种遗传性脑血管疾病,可累及小血管,通常引起反复的皮层下梗死并累及白质。它通常与偏头痛病史密切相关,在晚期病例中通常发生皮质下痴呆。这是一种以进行性恶化为特征的疾病,在非常晚期可发生假性球麻痹。1955年,一些病例被称为遗传性血管性痴呆,后来在1977年被重新命名为遗传性多梗死性痴呆,1991年被称为家族性动脉病变性脑白质病[1]。最终,随着该疾病相关基因的发现,Joutel于1996年将其更名为CADASIL。我们可以看到,这种疾病的病理发现是最近才发现的,因此采用了上述各种命名法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cerebrall Autosomal Dominant Artheriopathy with Subcortical Infarcts and Leukoencephalopathy
CADASIL is a hereditary cerebrovascular disease that affects small vessels and usually causes recurrent subcortical infarctions with white matter involvement. It is usually closely related to migraine history, in advanced cases a subcortical dementia usually occurs. It is a disease characterized by a picture of progressive deterioration, and in very advanced stages a pseudobulbar paralysis can occur. In 1955 some cases were described that were called hereditary vascular dementia, later in 1977 it was renamed hereditary multi-infarct dementia, in 1991 they came to be referred to as familial arteriopathic leukoencephalopathy [1]. Finally, with the discovery of the gene involved in the disease, it was renamed CADASIL in 1996 by Joutel. As we can see, the pathological discovery of the disease is of recent discovery, thus adopting the various nomenclatures described above.
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