AUTOSOMAL-DOMINANT MIGRAINE WITH MRI WHITE-MATTER ABNORMALITIES MAPPING TO THE CADASIL LOCUS
AUTOSOMAL-DOMINANT MIGRAINE WITH MRI WHITE-MATTER ABNORMALITIES MAPPING TO THE CADASIL LOCUS
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DOI：
10.1212/wnl.45.6.1086
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发表时间：
1995-06-01
期刊：
影响因子：
9.9
通讯作者：
BOUSSER, MG
中科院分区：
文献类型：
--
作者：
CHABRIAT, H;TOURNIERLASSERVE, E;BOUSSER, MG
常染色体显性遗传性脑动脉病伴皮质下梗塞和白质脑病(CADASIL)是一种定位于19号染色体的常染色体显性遗传性脑动脉病，主要特征是反复发作的皮质下缺血性卒中和磁共振成像上广泛的白质信号异常(WMA)。其他临床特征包括偏头痛发作和进行性皮质下痴呆。在这里，我们描述了同一个家庭的几个成员，他们遭受偏头痛发作，大多有先兆，与WMA相关，以常染色体显性遗传模式分离。一名患者患有进行性皮质下痴呆，有类似的WMA。尽管CADASIL的特征之一--缺血性卒中在这个家族中并不存在，但我们假设目前的疾病是由于CADASIL基因的改变引起的。利用跨越CADASIL基因座的四个19号染色体标记进行的遗传连锁分析支持这一假设。
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant cerebral arteriopathy mapped to chromosome 19 and characterized mainly by recurrent subcortical ischemic strokes and extensive white-matter signal abnormalities (WMAs) on magnetic resonance imaging. Other clinical features include migraine attacks and progressive subcortical dementia. Herein, we describe several members of the same family who suffered migraine attacks, mostly with aura, associated with WMAs, segregating with an autosomal dominant pattern of inheritance. One individual had a progressive subcortical dementia with similar WMAs. Although ischemic stroke, one of the hallmarks of CADASIL, was not present in this family, we hypothesized that the present disorder resulted from an alteration of the CADASIL gene. Genetic linkage analysis, using four chromosome 19 markers spanning the CADASIL locus, supports this hypothesis.