Coto E, Menéndez M, Navarro R, García-Castro M, Alvarez V
Genetica Molecular, Hospital Central de Asturias, Servicio de Salud del Principado de Asturias, Spain.
Eur J Neurol. 2006 Jun;13(6):628-31. doi: 10.1111/j.1468-1331.2006.01337.x.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders, or dementia, are also frequently found in these patients. Missense mutations in the Notch3 gene that create or destroy cysteine residues, have been found in most cases with a family history of the disease, although a few sporadic cases harbouring Notch3 mutations have also been described. Here, we describe a 44-year-old patient with clinical features of CADASIL who was a carrier of a new Notch3 mutation: cys128-->gly. Both parents were alive and healthy, and negative for the mutation. This case illustrates the interest of analysing the Notch3 gene in cases with clinical features of CADASIL, even in the absence of a family history of the disease.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是最常见的遗传性卒中形式之一，这些患者还经常出现伴先兆偏头痛、情绪障碍或痴呆。在大多数有该疾病家族史的病例中发现了Notch3基因的错义突变，这些突变会产生或破坏半胱氨酸残基，不过也有少数散发病例携带Notch3突变的情况被描述。在此，我们报告一名44岁具有CADASIL临床特征的患者，其为一种新的Notch3突变：cys128-->gly的携带者。其父母均健在且健康，该突变检测为阴性。此病例表明，即使在没有该疾病家族史的情况下，对于具有CADASIL临床特征的病例分析Notch3基因也具有重要意义。
