title: A presenilin 1 mutation in the first case of Alzheimer's disease: revisited.
abstract: BACKGROUND
  Recently, a single point mutation in the presenilin 1 (PSEN1) gene of the first described Alzheimer's disease (AD) patient Auguste D was reported by Müller and co-workers. However, the sequencing results of the DNA from a 100-year-old tissue contained some uncertainties.
  
  
  METHODS
  We heat extracted DNA from an original histological slice of Auguste D's brain and used nested polymerase chain reaction for the amplification of different exons of genes known to be affected in familial forms of AD.
  
  
  RESULTS
  Our sequencing analysis did not validate the reported mutation. Furthermore, an extended sequencing analysis of Auguste D's DNA revealed no indication of a nonsynonymous hetero- or homozygous mutation in the exons of APP, PSEN1, and PSEN2 genes comprising the already known familial AD mutations.
  
  
  CONCLUSIONS
  Despite the wealth of data from Müller and co-workers, our results emphasize the requirement of more detailed analysis of Auguste D's DNA in future.
authors.affiliation: Division of Human Biology and Human Genetics, Technical University of Kaiserslautern, Kaiserslautern, Germany; Network Aging Research (NAR), Heidelberg, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Rupp
authors.affiliation: Network Aging Research (NAR), Heidelberg, Germany.
authors.forename: Konrad
authors.initials: K
authors.lastname: Beyreuther
authors.affiliation: Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, Goethe-University, Frankfurt am Main, Germany.
authors.forename: Konrad
authors.initials: K
authors.lastname: Maurer
authors.affiliation: Division of Human Biology and Human Genetics, Technical University of Kaiserslautern, Kaiserslautern, Germany. Electronic address: s.kins@biologie.uni-kl.de.
authors.forename: Stefan
authors.initials: S
authors.lastname: Kins
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D053764:Presenilin-1
keywords: Alzheimer's disease; Auguste Deter; Paraffin embedded tissue