Clinical and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease.
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.
Sinning
Mariana
M
Departamento de Neurología Neurocirugía, Hospital Clínico de la Universidad de Chile, Santiago, Chile. msinning@redclinicauchile.cl
van Rooyen
Jan Piere
JP
Venegas-Francke
Pablo
P
Vásquez
Carolina
C
Behrens
María Isabel
MI
Ramírez
Alfredo
A
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*
D053764:Presenilin-1