Analysis of clinical, imaging and genetic mutations of 37 cases of cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy from 19 pedigrees
10.3760/cma.j.issn.1006-7876.2017.08.010
- VernacularTitle:来自19个家系37例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的临床影像及NOTCH3基因突变特征分析
- Author:
Zhixia REN
;
Yingying SHI
;
Zuzhi CHEN
;
Mingrong XIA
;
Wan WANG
;
Junran LIU
;
Huiqin LIU
;
Shuai CHEN
;
Yao ZHOU
;
Yue HUANG
;
Li XIANG
;
Jiewen ZHANG
- Keywords:
Cerebral arterial diseases;
Heredity;
Genes;
dominant;
Mutation;
Risk factors;
Magnetic resonance imaging
- From:
Chinese Journal of Neurology
2017;50(8):613-618
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical, imaging characteristics and NOTCH3 mutations of cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) in Henan, China.Methods CADASIL patients diagnosed by gene or biopsy in People′s Hospital of Zhengzhou University between 2012-2016 were recruited.Clinical and imaging features of these patients were analyzed retrospectively.The distribution of NOTCH3 gene mutations hotspots was described in Henan region at the same time.Results There were 37 patients from 19 families who were diagnosed as CADASIL by genetic testing or biopsy, 27 of whom had symptoms of CADASIL.Two families were confirmed by pathological examination and 17 by genetic testing.Of these 17 families, 13 mutations were found.Mutations in exon 11 were found in eight families, in exon 4 were detected in four families, and in exon 13 were found in two families.Mutation in exons 3, 8 and 20 was detected in one family respectively.Most patients presented with stroke and several presented with cognitive decline.Twelve patients had been attacked by risk factors.Magnetic resonance imaging (MRI) was performed on 22 patients.White-matter lesions were distributed in brain stem, basal ganglia, subcortical, temporal pole, external capsule.There were 19 patients with white-matter lesions in temporal pole and seven in capsula externa, showed as a high signal in T2WI.Conclusions CADASIL patients can be associated with risk factors.T2WI hyperintensities in the anterior temporal lobe were more common than that in the capsular external.Exon 11 and exon 4 were the hotspots for the NOTCH3 mutation in Henan patients.
