Alzheimer's disease other diagnostic studies: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Alzheimer's disease}} | {{Alzheimer's disease}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{ADS}} | ||
==Overview== | ==Overview== | ||
Genetic study is reserved for research purposes or for those who have presenile dementia. They may be helpful in the diagnosis of Alzheimer's dementia. Genotyping may be positive for Apolipoprotein (APOE)ε-4, APOE ε-3, Amyloid precursor protein (APP), Presenilin (PSEN)1 and PSEN 2 genes. | |||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
'''Genetic testing''' | '''Genetic testing''' | ||
* Genotyping for Apolipoprotein E (APOE)<sup>†</sup> may be helpful in the diagnosis of Alzheimer's disease (AD), although it is not routinely recommended.<ref name="pmid7646655">{{cite journal| author=Petersen RC, Smith GE, Ivnik RJ, Tangalos EG, Schaid DJ, Thibodeau SN et al.| title=Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. | journal=JAMA | year= 1995 | volume= 273 | issue= 16 | pages= 1274-8 | pmid=7646655 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7646655 }} </ref><ref name="pmid9468467">{{cite journal| author=Mayeux R, Saunders AM, Shea S, Mirra S, Evans D, Roses AD et al.| title=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. | journal=N Engl J Med | year= 1998 | volume= 338 | issue= 8 | pages= 506-11 | pmid=9468467 | doi=10.1056/NEJM199802193380804 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9468467 }} </ref> Findings suggestive of Alzheimer's disease include: | * Genotyping for Apolipoprotein E (APOE)<sup>†</sup> may be helpful in the diagnosis of Alzheimer's disease (AD), although it is not routinely recommended.<ref name="pmid7646655">{{cite journal| author=Petersen RC, Smith GE, Ivnik RJ, Tangalos EG, Schaid DJ, Thibodeau SN et al.| title=Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. | journal=JAMA | year= 1995 | volume= 273 | issue= 16 | pages= 1274-8 | pmid=7646655 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7646655 }} </ref><ref name="pmid9468467">{{cite journal| author=Mayeux R, Saunders AM, Shea S, Mirra S, Evans D, Roses AD et al.| title=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. | journal=N Engl J Med | year= 1998 | volume= 338 | issue= 8 | pages= 506-11 | pmid=9468467 | doi=10.1056/NEJM199802193380804 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9468467 }} </ref>. They are ereserved for research purposes and for those with presnile dementia Findings suggestive of Alzheimer's disease include: | ||
** APOE ε-4 allele of APOE gene is positive | ** APOE ε-4 allele of APOE gene is positive | ||
** APOE ε-3 and APOE ε-2<sup>‡</sup> are positive | ** APOE ε-3 and APOE ε-2<sup>‡</sup> are positive | ||
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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
Genetic study is reserved for research purposes or for those who have presenile dementia. They may be helpful in the diagnosis of Alzheimer's dementia. Genotyping may be positive for Apolipoprotein (APOE)ε-4, APOE ε-3, Amyloid precursor protein (APP), Presenilin (PSEN)1 and PSEN 2 genes.
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 ereserved for research purposes and for those with presnile 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]
- 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
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.