NOTCH3基因的新发突变导致大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）。
De novo mutation in the NOTCH3 gene causing CADASIL.
作者信息
Stojanov Dragan, Grozdanović Danijela, Petrović Sladjana, Benedeto-Stojanov Daniela, Stefanović Ivan, Stojanović Nebojša, Ilić Dušica N
机构信息
Institute of Radiology, Faculty of Medicine, University of Niš, Bul. Dr. Zorana Djindjića 48, 18000 Niš, Serbia.
Health Center Jagodina, Karađorđeva 4, 35000 Jagodina, Serbia.
出版信息
Bosn J Basic Med Sci. 2014 Feb;14(1):48-50. doi: 10.17305/bjbms.2014.2297.
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 and dementia. CADASIL is caused by mutations of the NOTCH3 gene. This mutation is inherited as an autosomal dominant trait. Most individuals with CADASIL have a parent with the disorder. In extremely rare cases, CADASIL may occur due to a spontaneous genetic mutation that occurs for unknown reasons (de novo mutation). We report a new case of patient with de novo mutation of the NOTCH3 gene and a condition strongly suggestive of CADASIL (migraine, stroke, and white matter abnormalities), except that this patient did not have any first-degree relatives with similar symptoms.
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）是最常见的遗传性中风形式之一，还会导致伴有先兆的偏头痛、情绪障碍和痴呆。CADASIL由NOTCH3基因突变引起。这种突变以常染色体显性性状遗传。大多数CADASIL患者有患该病的父母。在极其罕见的情况下，CADASIL可能由于不明原因的自发基因突变（新发突变）而发生。我们报告了一例NOTCH3基因新发突变且病情强烈提示CADASIL（偏头痛、中风和白质异常）的患者，不过该患者没有任何有类似症状的一级亲属。
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