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

作者：Huang, Jie; Li, Liru; Zhang, Bin^*; Zhang, Ting

来源：Neural Regeneration Research, 2011, 6(35): 2779-2783.

DOI：10.3969/j.issn.1673-5374.2011.35.010

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

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 Notch3 gene. No other mutations in exons were detected.

• 出版日期2011-12
• 单位上海交通大学; 安徽理工大学