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Apolipoprotein E genotypes in primary progressive aphasia

M M Mesulam1, N Johnson, Z Grujic

  • 1Department of Neurology, Northwestern University Medical School, Chicago, IL, USA.

Neurology
|July 1, 1997
PubMed
Summary

Apolipoprotein E (APOE) genotyping in primary progressive aphasia (PPA) patients revealed distinct allele frequencies compared to Alzheimer's disease (AD). The APOE E4 allele is not a significant risk factor for PPA, supporting its distinction from AD.

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Primary progressive aphasia (PPA) is a neurodegenerative syndrome.
  • Distinguishing PPA from Alzheimer's disease (AD) is crucial for diagnosis and research.
  • Apolipoprotein E (APOE) genotype is a known risk factor for AD.

Purpose of the Study:

  • To investigate the apolipoprotein E (APOE) genotype distribution in patients with primary progressive aphasia (PPA).
  • To compare APOE allele frequencies in PPA with those in probable AD (PRAD) and histopathologic AD (AD).
  • To determine if APOE E4 is a risk factor for PPA.

Main Methods:

  • Apolipoprotein E (APOE) genotyping was performed on 12 patients clinically diagnosed with primary progressive aphasia (PPA).
  • Allele frequencies (E2, E3, E4) were calculated for the PPA cohort.

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  • APOE allele frequencies were compared with published data from PRAD and AD patient groups and control populations.

    • Main Results:

    • The allele frequencies in the PPA group were 4% for E2, 83% for E3, and 13% for E4.
    • This distribution significantly differed from that observed in PRAD and AD patient groups.
    • The APOE E4 allele frequency in PPA patients was comparable to control populations and lower than in PRAD/AD groups.

    Conclusions:

    • The APOE E4 allele is not a significant risk factor for developing primary progressive aphasia (PPA).
    • These genetic findings support the syndromic distinction between PPA and probable Alzheimer's disease (PRAD).
    • The study indicates biological validity for the clinical diagnosis of PPA, identifying a genetically distinct population from PRAD patients.