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PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.

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机构： [1]Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [2]Beijing Key Laboratory of Geriatric Cognitive Disorders, Beijing, China [3]Clinical Center for Neurodegenerative Disease and Memory Impairment, Capital Medical University, Beijing, China [4]Center of Alzheimer’s Disease, Beijing Institute for Brain Disorders, Beijing, China [5]Key Laboratory of Neurodegenerative Diseases, Ministry of Education, Beijing, China [6]National Clinical Research Center for Geriatric Disorders, Beijing, China

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关键词： Alzheimer's disease APOE epsilon 4 familial Alzheimer's disease mild cognitive impairment PSENs/APP mutations

摘要：

The PSENs/APP mutation distribution in Chinese patients with familial Alzheimer's disease (FAD) remains unclear. We aimed to analyze the genetic features of Chinese FAD pedigrees with and without PSENs/APP mutations. In total, 1330 patients with Alzheimer's disease (AD) or mild cognitive impairment in 404 pedigrees were enrolled from the Chinese Familial Alzheimer's Disease Network. PSENs/APP mutations and APOE frequencies were determined. In total, 13.12% of pedigrees carried PSENs/APP missense mutations, 3.71% carried PSENs/APP synonymous/untranslated region variants, and 83.17% did not carry PSENs/APP mutations. Eleven missense mutations were first identified. In patients without PSENs/APP mutations, 44.31% carried one APOEε4 allele, and 14.85% two APOEε4 alleles. The new PSENs/APP mutations indicate heterogeneity in AD pathogenesis between Chinese and other ethnic groups. The low mutation rate suggests the involvement of other genes/factors in Chinese FAD. APOEε4 might be a major gene for some FAD without PSENs/APP mutations. © 2020 the Alzheimer's Association.

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出版当年[2019]版：

大类 | 1 区

医学

小类 | 1 区临床神经病学

最新[2025]版：

大类 | 1 区

医学

小类 | 1 区临床神经病学

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出版当年[2018]版：

Q1 CLINICAL NEUROLOGY

最新[2023]版：

Q1 CLINICAL NEUROLOGY

影响因子： 13.1 最新[2023版] 16.1 最新五年平均 14.423 出版当年[2018版] 13.533 出版当年五年平均 12.764 出版前一年[2017版] 17.127 出版后一年[2019版]

第一作者：

第一作者机构： [1]Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China

通讯作者：

通讯机构： [1]Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [2]Beijing Key Laboratory of Geriatric Cognitive Disorders, Beijing, China [3]Clinical Center for Neurodegenerative Disease and Memory Impairment, Capital Medical University, Beijing, China [4]Center of Alzheimer’s Disease, Beijing Institute for Brain Disorders, Beijing, China [5]Key Laboratory of Neurodegenerative Diseases, Ministry of Education, Beijing, China [6]National Clinical Research Center for Geriatric Disorders, Beijing, China

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