A case of hereditary multi-infarct dementia Mutation in exon 11 of the Notch3 gene on chromosome 19  

作　　者：Jie Huang Liru Li Bin Zhang Ting Zhang 

机构地区：[1]Department of Neurology, Branch Hospital in Fengxian of Sixth People＇s Hospital, Shanghai Neurological Research Institute of Anhui University of Science ＆ Technology, the Affiliated Hospital of Anhui University of Science ＆ Technology, Shanghai 201499, China [2]Department of Emergency, Branch Hospital in Fengxian of Sixth People＇s Hospital, Shanghai Neurological Research Institute of Anhui University of Science ＆ Technology, the Affiliated Hospital of Anhui University of Science ＆ Technology, Shanghai 201499, China [3]Department of Neurology, Sixth People＇s Hospital of Shanghai Jiao Tong University, Shanghai 200233, China

出　　处：《Neural Regeneration Research》2011年第35期2779-2783,共5页中国神经再生研究（英文版）

基　　金：the National Natural Science Foundation of China,No,31100783;Fengxian District Science Technology Commission Foundation of Shanghai,No.2010-101101

摘　　要：This study is a report on one 59-year-old male patient with hereditary multi-infarct dementia who came from a family with a positive family history of this disease. The patient primarily presented with dizziness accompanied by vertigo and a positive Romberg＇s sign. Skull magnetic resonance images showed lacunar infarction in bilateral temporal lobes, bilateral basal ganglias, periventricular white matter and semioval center, and ischemic focus accompanied by white matter degeneration, exhibiting senile morphological brain changes. No abnormalities were observed by skull magnetic resonance angiography. Gene detection further confirmed that there was Arg607Cys heterozygous mutation in exon 11 of the Notch3gene. No other mutations in exons were detected.This study is a report on one 59-year-old male patient with hereditary multi-infarct dementia who came from a family with a positive family history of this disease. The patient primarily presented with dizziness accompanied by vertigo and a positive Romberg＇s sign. Skull magnetic resonance images showed lacunar infarction in bilateral temporal lobes, bilateral basal ganglias, periventricular white matter and semioval center, and ischemic focus accompanied by white matter degeneration, exhibiting senile morphological brain changes. No abnormalities were observed by skull magnetic resonance angiography. Gene detection further confirmed that there was Arg607Cys heterozygous mutation in exon 11 of the Notch3gene. No other mutations in exons were detected.

关 键 词：cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy clinical manifestation magnetic resonance imaging molecular genetics Notch3 gene neural regeneration 

分 类 号：Q75[生物学—分子生物学] Q343