title: Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification.
abstract: Mutations in the presenilin 1 (PSEN1) gene are more commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations in the amyloid precursor protein (APP) and the presenilin 2 (PSEN2) genes. More than 100 different mutations in the PSEN1 gene have been detected, and the clinical phenotypes have been described in the literature. This paper reports the case of a 38-year-old female showing early memory impairment and having a base pair mutation from guanine (G) to cytosine (C) at codon 139 of PSEN1, which leads to the substitution of a methionine with an isoleucine.
authors.affiliation: Department of Neurology, College of Medicine, Hanyang University, Seoul, South Korea.
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Hyun Young
authors.initials: HY
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Seung Hyun
authors.initials: SH
authors.lastname: Kim
mesh_terms: D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics* / Q000503:physiopathology; D019943:Amino Acid Substitution / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008569:Memory Disorders / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1