title: Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis.
abstract: In 1911, Alois Alzheimer published a detailed report (Zbl. ges. Neurol. Psych. 4: 356-385) on a peculiar case of the disease that had been named after him by Emil Kraepelin in 1910. Alzheimer describes a 56-year-old male patient (Johann F.) who suffered from presenile dementia and who was hospitalized in Kraepelin's clinic for more than 3 years. Post-mortem examination of the patient's brain revealed numerous amyloid plaques but no neurofibrillary tangles in the cerebral cortex, corresponding to a less common form of Alzheimer disease which may be referred to as 'plaque only'. We have identified well-preserved histological sections of this case and performed mutational screening of exon 17 of the amyloid precursor protein gene and genotyping for apolipoprotein E alleles. The patient was shown to be homozygous for apolipoprotein allele epsilon3 and lacked APP mutations at codons 692, 693, 713 and 717. This case is of historical importance as it may have convinced Kraepelin to name the disease after his co-worker, Alois Alzheimer.
authors.affiliation: Max Planck Institute of Psychiatry, Department of Neuromorphology, Martinsried, Germany. u792201@sunmail.lrz-muenchen.de
authors.forename: M B
authors.initials: MB
authors.lastname: Graeber
authors.forename: S
authors.initials: S
authors.lastname: Kösel
authors.forename: R
authors.initials: R
authors.lastname: Egensperger
authors.forename: R B
authors.initials: RB
authors.lastname: Banati
authors.forename: U
authors.initials: U
authors.lastname: Müller
authors.forename: K
authors.initials: K
authors.lastname: Bise
authors.forename: P
authors.initials: P
authors.lastname: Hoff
authors.forename: H J
authors.initials: HJ
authors.lastname: Möller
authors.forename: K
authors.initials: K
authors.lastname: Fujisawa
authors.forename: P
authors.initials: P
authors.lastname: Mehraein
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics / Q000266:history* / Q000473:pathology; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D049673:History, 20th Century; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D016564:Amyloid beta-Protein Precursor