Bougea Anastasia, Velonakis George, Spantideas Nikolaos, Anagnostou Evangelos, Paraskevas George, Kapaki Elisabeth, Kararizou Evangelia
1 First Department of Neurology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
2 Research Unit of Radiology and Medical Imaging, Second Department of Radiology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
Neuroradiol J. 2017 Dec;30(6):583-585. doi: 10.1177/1971400917700168. Epub 2017 Apr 12.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) was previously considered a rare, early-onset recessive form of small-vessel disease (SVD) caused by biallelic mutations in the serine protease gene HTRA1 with subsequent loss of its activity. However, very recently, there is growing interest of research showing heterozygous HTRA1 mutations as causes of SVD with a dominant inheritance pattern. This first Greek heterozygous CARASIL case with unusual clinico-radiological presentation extends our very recent knowledge on how heterozygous CARASIL mutations may be associated with cerebral SVD. Our findings highlight heterozygous HTRA1 mutations as an important cause of familial SVD, and that screening of HTRA1 should be considered in all patients with a hereditary SVD of unknown aetiology.
伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病（CARASIL）以前被认为是一种罕见的、早发性的小血管疾病（SVD）隐性形式，由丝氨酸蛋白酶基因HTRA1的双等位基因突变导致其活性丧失引起。然而，最近，越来越多的研究关注显示杂合性HTRA1突变是具有显性遗传模式的SVD病因。这例首例具有不寻常临床放射学表现的希腊杂合性CARASIL病例扩展了我们最近关于杂合性CARASIL突变如何与脑SVD相关的认识。我们的研究结果强调杂合性HTRA1突变是家族性SVD的一个重要病因，并且对于所有病因不明的遗传性SVD患者都应考虑进行HTRA1筛查。
