Affiliations: [a] Hospital Clínico de la Universidad de Chile, Santiago, Chile | [b] Clinica Alemana de Santiago, Santiago, Chile | [c] Institute of Human Genetics, University of Cologne, Cologne, Germany | [d] Section for Clinical and Molecular Neurogenetics, Neurology Department, University Luebeck, Luebeck, Germany
Correspondence:
[*]
Correspondence to: Dr. Mariana Sinning, Opazo, Departamento de Neurología Neurocirugía, Hospital Clínico de la Universidad de Chile, Santos Dumont 999, Santiago, Chile. Fax: +56 02 4177604, E-mail: [email protected]; Dr. Alfredo Ramirez, Section for Clinical and Molecular Neurogenetics, Neurology Department, University Luebeck Maria-Goeppert-Strasse 1, D-23562, Luebeck, Germany. Tel.: +49 451 2903 351; Fax: +49 451 2903 355; E-mail: [email protected].
Note: [1] Current address: Clínica Las Condes, Santiago, Chile.
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.
