Neurogenetics

, Volume 1, Issue 1, pp 73–80 | Cite as

Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis

  • M.B. Graeber
  • S. Kösel
  • R. Egensperger
  • R.B. Banati
  • U. Müller
  • K. Bise
  • P. Hoff
  • H.J. Möller
  • K. Fujisawa
  • P. Mehraein

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 ε3 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.

Keywords: Alzheimer disease, amyloid plaques, amyloid precursor protein gene, apolipoprotein E gene, neurofibrillary tangles 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • M.B. Graeber
    • 1
  • S. Kösel
    • 2
  • R. Egensperger
    • 3
  • R.B. Banati
    • 4
  • U. Müller
    • 5
  • K. Bise
    • 2
  • P. Hoff
    • 6
  • H.J. Möller
    • 6
  • K. Fujisawa
    • 7
  • P. Mehraein
    • 2
  1. 1.Max Planck Institute of Psychiatry, Department of Neuromorphology, Am Klopferspitz 18a, 82152 Martinsried, GermanyDE
  2. 2.Institute of Neuropathology, Molecular Neuropathology Laboratory, Ludwig Maximilians University, Thalkirchner Str. 36, 80337 Munich, GermanyDE
  3. 3.Institute of Neuropathology, Molecular Neuropathology Laboratory, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, GermanyDE
  4. 4.Hammersmith Hospital, Cyclotron Unit, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, London, W12 ONN, UKGB
  5. 5.Institute of Human Genetics, Justus Liebig University, Schlangenzahl 14, 35392 Giessen, GermanyDE
  6. 6.Psychiatric Clinic, Ludwig Maximilians University, Nußbaumstr. 7, 80336 Munich, GermanyDE
  7. 7.Tokyo Metropolitan Institute for Neuroscience, 2–6 Musashidai, Fuchu Tokyo, 183 JapanJP

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