Ragno M, Cacchiò G, Fabrizi G M, Scarcella M, Silvaggio F, Cavallaro T, Taioli F, Trojano L
Division of Neurology, C. and G. Mazzoni Hospital, Ascoli Piceno, and Department of Neurological and Visual Science, University of Verona, Italy.
Neurol Sci. 2007 Aug;28(4):181-4. doi: 10.1007/s10072-007-0817-x. Epub 2007 Aug 10.
CADASIL is an autosomal dominant arteriopathy characterised by diffuse white matter lesions and small subcortical infarcts on neuroimaging and a variable combination of recurrent cerebral ischaemic episodes, cognitive deficits, migraine with aura and psychiatric symptoms. It is caused by mutations in the NOTCH3 gene encoding a NOTCH3 receptor protein. Here, we describe the genetical, clinical, neuropsychological and neuroimaging findings in an Italian CADASIL patient with a rare mutation in exon 10 leading to a Gly528Cys substitution.
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）是一种常染色体显性遗传性动脉病，其特征在于神经影像学显示弥漫性白质病变和小的皮质下梗死，以及复发性脑缺血发作、认知缺陷、伴有先兆的偏头痛和精神症状的多种组合。它是由编码NOTCH3受体蛋白的NOTCH3基因突变引起。在此，我们描述了一名意大利CADASIL患者的遗传学、临床、神经心理学和神经影像学发现，该患者外显子10存在导致甘氨酸528突变为半胱氨酸的罕见突变。
