The natural history of CADASIL - A pooled analysis of previously published cases
The natural history of CADASIL - A pooled analysis of previously published cases
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DOI：
10.1161/01.str.30.6.1230
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发表时间：
1999-06-01
期刊：
影响因子：
8.3
通讯作者：
Mohr, JP
中科院分区：
文献类型：
--
作者：
Desmond, DW;Moroney, JT;Mohr, JP
背景和目的：尽管有大量的常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（CADASIL）家族的报道，我们对这种疾病的认识仍然不完全。因此，我们进行了这项研究，以调查CADASIL. Methods的表型范围和自然史，我们进行了汇总分析以前发表的cases.Results-We确定了105有症状的患者在33个家庭。血管风险因素不常见，仅8例患者报告了高血压。症状发作的平均年龄为36.7 ± 12.9岁，45例患者的初始症状为卒中或短暂性脑缺血发作，平均发病年龄为41.2 ± 9.2岁。偏头痛也是一种常见的初始症状，有42例患者报告，平均年龄为28.3 ± 11.7岁，其他初始症状包括9例患者的抑郁症，6例患者的认知障碍和3例患者的癫痫发作。关于临床病程，71例患者发生卒中或短暂性脑缺血发作，其中52例患者发生1起或多起复发性缺血事件。44例患者报告了痴呆。只有另外3名患者在后来经历了偏头痛，而另外13名患者发展为抑郁症。6例患者出现癫痫发作。105名患者中有200万人死亡，平均死亡年龄为54.8 ± 10.6岁。这22例患者中有19例经历了中风或短暂性脑缺血发作和19例derment. Conclusions CADASIL通常成为明显的偏头痛或缺血性事件在成年早期或中期，后来表现为通过反复皮质下缺血性中风导致逐步下降和痴呆，并导致生存率降低。
Background and Purpose-Although numerous families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported, our understanding of the disease remains incomplete. Thus, we performed this study to investigate the phenotypic range and natural history of CADASIL.Methods-We performed a pooled analysis of previously published cases.Results-We identified 105 symptomatic patients in 33 families. Vascular risk factors were uncommon, with hypertension reported in only 8 patients. The mean age of symptom onset was 36.7+/-12.9 years, Stroke or transient ischemic attack was an initial symptom in 45 patients, with a mean age of onset of 41.2+/-9.2 years. Migraine was also a common initial symptom, reported by 42 patients at a younger mean age of 28.3+/-11.7 years, Other initial symptoms included depression in 9 patients, cognitive impairment in 6 patients, and seizures in 3 patients. Regarding clinical course, 71 patients experienced a stroke or transient ischemic attack, and 52 of those patients had 1 or more recurrent ischemic events. Dementia was reported in 44 patients. Only 3 additional patients experienced migraine at a later time, while 13 additional patients developed depression. Six patients had seizures. Twenty-mio of the 105 patients had died, with a mean age of death of 54.8+/-10.6 years. Nineteen of those 22 patients had experienced a stroke or transient ischemic attack and 19 patients were demented.Conclusions-CADASIL typically becomes evident in early or middle adulthood with migraine or an ischemic event, later manifests itself through recurrent subcortical ischemic strokes leading to a stepwise decline and dementia, and results in reduced survival.