title: Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene.
abstract: We report a 22-year onset age man diagnosed with rapidly progressing early-onset Alzheimer's disease with predominant extrapyramidal symptoms as the initial presenting symptoms and V391G mutation in presenilin 1 gene (PSEN1) was founded. The unaffected parents of the proband are not carriers of the mutation but have histories of extrapyramidal diseases, suggesting de novo origin of V391G mutation. The Val391Gly variation widens the number of PSEN1 mutations responsible for early-onset Alzheimer's disease with extrapyramidal phenotype and would help to establish a functional map of presenilin 1 protein architecture.
authors.affiliation: Department of Neurology, First Affiliated Hospital of China Medical University, Shenyang, LiaoNing, China.
authors.forename: Fan
authors.initials: F
authors.lastname: Lou
authors.affiliation: Department of Neurology, First Affiliated Hospital of China Medical University, Shenyang, LiaoNing, China. Electronic address: grace_shenyang@163.com.
authors.forename: Xiaoguang
authors.initials: X
authors.lastname: Luo
authors.affiliation: Department of Neurology, The Fourth Affiliated Hospital of China Medical University, Shenyang, LiaoNing, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Neurology, First Affiliated Hospital of China Medical University, Shenyang, LiaoNing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ren
authors.affiliation: Department of Neurology, First Affiliated Hospital of China Medical University, Shenyang, LiaoNing, China.
authors.forename: Zhiyi
authors.initials: Z
authors.lastname: He
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics*; D018450:Disease Progression; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D053764:Presenilin-1 / Q000235:genetics*; D055815:Young Adult
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1
keywords: Alzheimer's disease; De novo mutation; Early-onset; Presenilin 1 gene