Acta Neuropathologica

, Volume 90, Issue 3, pp 239–243

Association of apolipoprotein ɛ4 allele and neuropathologic findings in patients with dementia

  • M. -G. Martinoli
  • J. Q. Trojanowski
  • M. L. Schmidt
  • S. E. Arnold
  • T. M. Fujiwara
  • V. M. -Y. Lee
  • H. Hurtig
  • J. -P. Julien
  • C. Clark
Regular Paper

DOI: 10.1007/BF00296506

Cite this article as:
Martinoli, M.G., Trojanowski, J.Q., Schmidt, M.L. et al. Acta Neuropathol (1995) 90: 239. doi:10.1007/BF00296506
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Abstract

Apolipoprotein E (APOE) is a lipoprotein expressed in liver and brain as one of three isoforms (APOE 2, APOE 3 and APOE 4). Recent findings suggest that the presence of APOE 4 is associated with an increased risk for both familial Alzheimer's disease and late-onset Alzheimer's disease. We extended these observations by determining the frequency of APOE alleles in patients with pathologically confirmed Alzheimer's Disease (AD), Parkinson's disease (PD), diffuse Lewy Body disease (DLBD), AD with concomitant PD pathology, demented PD patients without or with concomitant AD pathology and in schizophrenics with a progressive dementia (SCHIZ+DEM). The APOE genotype was determined by restriction digestion of polymerase chain reaction-amplified DNA isolated from frozen brain samples. The frequency of the APOE ɛ4 allele was highest among sporadic AD and DLBD patients (0.30 and 0.38, respectively) and lowest in the SCHIZ+DEM and non-demented PD patients (0.06 and 0.1, respectively). Thus, the APOE ɛ4 allele is over-represented selectively in patients with dementias associated with plaques and tangles and/or cortical Lewy bodies, but not in demented schizophrenics or non-demented PD patients.

Key words

Apolipoprotein E Dementia Diffuse Lewy body disease Alzheimer's disease Parkinson's disease 

Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • M. -G. Martinoli
    • 1
  • J. Q. Trojanowski
    • 4
    • 5
  • M. L. Schmidt
    • 4
  • S. E. Arnold
    • 5
    • 6
  • T. M. Fujiwara
    • 2
  • V. M. -Y. Lee
    • 4
    • 5
  • H. Hurtig
    • 6
    • 7
  • J. -P. Julien
    • 1
  • C. Clark
    • 6
    • 7
  1. 1.Centre for Research in Neuroscience, Montréal General HospitalMcGill UniversityMontréalCanada
  2. 2.Departments of Human Genetics Medicine, and PediatricsMcGill UniversityMontréalCanada
  3. 3.Department of BiochemistryUniversité du QuébecTrois-RivièresCanada
  4. 4.Department of Pathology and Laboratory MedicineThe University of Pennsylvania School of MedicinePhiladelphiaUSA
  5. 5.Department of NeurologyThe University of Pennsylvania School of MedicinePhiladelphiaUSA
  6. 6.Department of PsychiatryThe University of Pennsylvania School of MedicinePhiladelphiaUSA
  7. 7.Department of NeurologyThe Graduate HospitalPhiladelphiaUSA

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