Neurology Clinic, Faculty of Medicine, University of Belgrade, Dr Subotica 6, 11000, Belgrade, Serbia.
Acta Neurol Belg. 2013 Sep;113(3):299-302. doi: 10.1007/s13760-012-0174-2. Epub 2013 Jan 15.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.
伴有皮质下梗死和白质脑病的脑常染色体显性遗传性动脉病（CADASIL）是成年人中风和血管性痴呆的最常见遗传性病因。我们报告了一个来自塞尔维亚的家族，其在无血管危险因素的情况下出现中风和抑郁，脑部 MRI 显示 CADASIL。一个新的 NOTCH3 Gly89Cys 突变位于外显子 3。本报告表明，在具有典型临床和 MRI 特征的阳性家族史背景下，即使谱系形式不典型，也应高度怀疑 CADASIL，从而进行基因检测。
