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:

Overview

There are no other diagnostic studies associated with [disease name].

OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

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] 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]

  • Genotyping for the following may be helpful in the diagnosis of AD:
    • Amyloid Precursor Protein (APP)†
    • Presenilin (PSEN) 1 and 2 gene

† APP is also activated by APOE[4]

References

  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. 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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