ACE gene missense mutation in a case with early-onset, rapid progressing dementia

作     者：Jing Ni Shifu Xiao Xia Li Lin Sun Jing Ni;Shifu Xiao;Xia Li;Lin Sun

作者机构：Department of PsychiatryShanghai Huangpu District Mental Health CenterShanghaiChina Department of Geriatric PsychiatryShanghai Mental Health CenterShanghaiChina Alzheimer's Disease and Related Disorders CenterShanghai Jiao Tong UniversityShanghaiChina Deparment of Geriatric PsychiatryShanghai Mental Health CenterShanghaiChina 

出 版 物：《General Psychiatry》 (综合精神医学（英文）)

年 卷 期：2019年第32卷第5期

页      面：283-286页

核心收录：

学科分类：0402[教育学-心理学(可授教育学、理学学位）] 1004[医学-公共卫生与预防医学(可授医学、理学学位)] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 10[医学] 1009[医学-特种医学] 

基　　金：Shanghai Huangpu District research project 'Correlation study of different dimensions of mental behavior symptoms in patients with dementia and the mood disorder in their caregivers' 

主　　题：Alzheimer mutation testing 

摘      要：The population of early-onset Alzheimer s disease(EOAD)accounts for 1%-2%of the total population of Alzheimer s disease,and genetic mutations are more common in EOAD.The first symptom of the patient in the present case report was the decline in memories of recent events,and the disease progressed rapidly in the following 2 years.Genetic testing has revealed the presence of genetic mutations(c.A479G,p.N160S)of ACE,which causes the 160th codon of the ACE protein to change from aspartic acid to serine,and at the same time genotype of apolipoprotein E(APOE)is ε3/ε4.We think that this patient carries the mutation type of the sensitive gene ACE and the risk gene APOE of Alzheimer s disease,and this is the reason why the disease progressed rapidly.Moreover,we discussed ACE genetic mutation s meaning in EOAD progression.