Alzheimer's disease other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Amandeep Singh M.D.[2]

Overview

Genotyping for Apolipoprotein (APOE) ε-4, APOE ε-3, amyloid precursor protein (APP), presenilin PSEN1 and PSEN 2 genes may be helpful in the diagnosis of Alzheimer's disease (AD), although it is not routinely recommended. They may be helpful in the diagnosis of Alzheimer's dementia. However, genetic study is reserved for research purposes or for those who have presenile dementia.

Other Diagnostic Studies

Genetic testing

  • Genotyping for Apolipoprotein E (APOE) may be helpful in the diagnosis of Alzheimer's disease (AD), although it is not routinely recommended.[1][2]. They are reserved for research purposes and for those with presenile dementia Findings suggestive of Alzheimer's disease include:
    • APOE ε-4 allele of APOE gene is positive
    • APOE ε-3 and APOE ε-2 are positive

although certain studies have shown the protective effect of APOE ε-2 on AD.[3]

APOE ε-4 has been a strong predictor of clinical progression of AD[1]

  • Genotyping for the following may be helpful in the diagnosis of AD and they are reserved with those having presenile/early-onset dementia [4]and with the family history of AD:
    • Amyloid Precursor Protein (APP)
    • Presenilin (PSEN) 1 and 2 genes[4]

APP is also activated by APOE[5]

References

  1. 1.0 1.1 Petersen RC, Smith GE, Ivnik RJ, Tangalos EG, Schaid DJ, Thibodeau SN; et al. (1995). "Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals". JAMA. 273 (16): 1274–8. PMID 7646655.
  2. Mayeux R, Saunders AM, Shea S, Mirra S, Evans D, Roses AD; et al. (1998). "Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein E and Alzheimer's Disease". N Engl J Med. 338 (8): 506–11. doi:10.1056/NEJM199802193380804. PMID 9468467.
  3. Conejero-Goldberg C, Gomar JJ, Bobes-Bascaran T, Hyde TM, Kleinman JE, Herman MM; et al. (2014). "APOE2 enhances neuroprotection against Alzheimer's disease through multiple molecular mechanisms". Mol Psychiatry. 19 (11): 1243–50. doi:10.1038/mp.2013.194. PMID 24492349.
  4. 4.0 4.1 Bhaumik P, Ghosh P, Ghosh S, Feingold E, Ozbek U, Sarkar B; et al. (2017). "Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births". Genet Mol Biol. 40 (3): 577–585. doi:10.1590/1678-4685-GMB-2016-0138. PMID 28767121.
  5. Huang YA, Zhou B, Wernig M, Südhof TC (2017). "ApoE2, ApoE3, and ApoE4 Differentially Stimulate APP Transcription and Aβ Secretion". Cell. 168 (3): 427–441.e21. doi:10.1016/j.cell.2016.12.044. PMC 5310835. PMID 28111074.

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