期刊论文

CADASIL with clinical manifestations of lumbago,hunchback and Parkinson's syndrome

中文

中华医学遗传学杂志

1003-9406

2019

36

9

922-925

10.3760/cma.j.issn.1003-9406.2019.09.017

湖南省卫生计生委科研课题

本校为第一机构

目的探讨1例伴皮质下梗死和白质脑病的常染色体显性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)患者的临床特征和基因检测结果。方法收集患者及其家系成员的临床表型、神经影像学及基因检测资料,结合文献总结其临床特点。结果患者无头痛、反复卒中、痴呆、情感障碍等CADASIL的典型临床表现,仅表现为进行性加重的帕金森症状以及后期出现的腰痛、驼背、吞咽困难、视物重影等。头颅MRI扫描显示左侧基底节和外囊腔隙性脑梗死。基因检测发现NOTCH3第11外显子c. 1630C>T(p. R544C)变异。其母亲、姐姐和弟弟均携带c. 1630C>T(p. R...

OBJECTIVE: To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as lumbago, hunchback and Parkinson's syndrome. METHODS: A 49-years-old male CADASIL patient was reported. Results of clinical examination, neuroimaging and genetic testing were analyzed. His family members were also subjected to genetic testing. Related literature was reviewed. RESULTS: The patient had no typical symptoms of CADASIL such as headache, repeated stroke, dementia and emotional disorders, but progressive Parkinson's syndrome, late ons...