Buczek Julia, Błażejewska-Hyżorek Beata, Cudna Agnieszka, Lusawa Małgorzata, Lewandowska Eliza, Kurkowska-Jastrzębska Iwona, Członkowska Anna
2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Neurol Neurochir Pol. 2016 Jul-Aug;50(4):262-4. doi: 10.1016/j.pjnns.2016.04.008. Epub 2016 Apr 25.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small blood vessels disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH 3). We present a Polish family with a previously unreported novel mutation in exon 12 c.1851C>C/G of the NOTCH3 gene and varying disease expression. One of the two family members with the confirmed mutation presented with all the main CADASIL symptoms; while, his affected father was nearly asymptomatic. Both family members had epilepsy, coronary artery disease, and abdominal aorta aneurysm. Our observation confirms there is phenotypic variability in CADASIL not only between, but also within, families carrying the same mutation.
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）是一种由编码神经源性Notch同源蛋白3（NOTCH 3）的基因突变引起的遗传性小血管疾病。我们报告了一个波兰家族，该家族在NOTCH3基因外显子12的c.1851C>C/G处存在一个先前未报道的新突变，且疾病表现各异。两名携带确诊突变的家族成员中，一人出现了CADASIL的所有主要症状；而他患病的父亲几乎没有症状。两名家族成员均患有癫痫、冠状动脉疾病和腹主动脉瘤。我们的观察证实，CADASIL不仅在携带相同突变的家族之间，而且在家族内部也存在表型变异性。
