title: A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
abstract: A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yielded the discovery in one family of a T-->C mismatch in exon 7 which correspond to nucleotide 760 of cDNA, leading to a Leu171Pro mutation. The pedigree analysis and the literature data strongly suggest an etiopathogenic relationship of the mutation with the disorder.
authors.affiliation: Departamento de Fisiología, Universidad de Guadalajara, Jalisco, Mexico.
authors.forename: M G
authors.initials: MG
authors.lastname: Ramirez-Dueñas
authors.forename: E A
authors.initials: EA
authors.lastname: Rogaeva
authors.forename: C A
authors.initials: CA
authors.lastname: Leal
authors.forename: C
authors.initials: C
authors.lastname: Lin
authors.forename: G A
authors.initials: GA
authors.lastname: Ramirez-Casillas
authors.forename: J A
authors.initials: JA
authors.lastname: Hernandez-Romo
authors.forename: P H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: J M
authors.initials: JM
authors.lastname: Cantu
mesh_terms: D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D019943:Amino Acid Substitution; D006801:Humans; D007930:Leucine; D008565:Membrane Proteins / Q000235:genetics*; D008800:Mexico; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D053764:Presenilin-1; D011392:Proline
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D011392:Proline; D007930:Leucine