title: Clinical and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease.
abstract: Autosomal dominant early-onset Alzheimer's disease (ADEOAD) is associated predominantly with mutations in the genes that codify for presenilin 1 (PSEN1). Only a few ADEOAD families have been reported from Latin America. This is an extended Chilean pedigree affected by ADEOAD along 4 generations. The age of onset of dementia was between 38 and 42 years. Early manifestations were anxiety and depression. Mutation analysis revealed a heterozygous G to C transversion at position 438 of the mRNA in PSEN1 in all affected members. This is the first report of a Chilean family with ADEOAD to include mutation analysis.
authors.affiliation: Departamento de Neurología Neurocirugía, Hospital Clínico de la Universidad de Chile, Santiago, Chile. msinning@redclinicauchile.cl
authors.forename: Mariana
authors.initials: M
authors.lastname: Sinning
authors.forename: Jan Piere
authors.initials: JP
authors.lastname: van Rooyen
authors.forename: Pablo
authors.initials: P
authors.lastname: Venegas-Francke
authors.forename: Carolina
authors.initials: C
authors.lastname: Vásquez
authors.forename: María Isabel
authors.initials: MI
authors.lastname: Behrens
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ramírez
mesh_terms: D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D002677:Chile; D004252:DNA Mutational Analysis; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D053764:Presenilin-1