Alzheimer's disease other diagnostic studies: Difference between revisions
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** [[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 | ||
<sup>‡</sup> although certain studies have shown the protective effect of [[APOE]] ε-2 on AD<ref name="pmid24492349">{{cite journal| author=Conejero-Goldberg C, Gomar JJ, Bobes-Bascaran T, Hyde TM, Kleinman JE, Herman MM et al.| title=APOE2 enhances neuroprotection against Alzheimer's disease through multiple molecular mechanisms. | journal=Mol Psychiatry | year= 2014 | volume= 19 | issue= 11 | pages= 1243-50 | pmid=24492349 | doi=10.1038/mp.2013.194 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24492349 }} </ref> | <sup>‡</sup> although certain studies have shown the protective effect of [[APOE]] ε-2 on AD.<ref name="pmid24492349">{{cite journal| author=Conejero-Goldberg C, Gomar JJ, Bobes-Bascaran T, Hyde TM, Kleinman JE, Herman MM et al.| title=APOE2 enhances neuroprotection against Alzheimer's disease through multiple molecular mechanisms. | journal=Mol Psychiatry | year= 2014 | volume= 19 | issue= 11 | pages= 1243-50 | pmid=24492349 | doi=10.1038/mp.2013.194 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24492349 }} </ref> | ||
[[APOE]] ε-4 has been a strong predictor of clinical progression of AD<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> | [[APOE]] ε-4 has been a strong predictor of clinical progression of AD<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> | ||
Revision as of 13:54, 21 September 2017
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Alzheimer's disease other diagnostic studies On the Web |
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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 reserved for research purposes and for those with presenile dementia Findings suggestive of Alzheimer's disease include:
‡ 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
- ↑ 1.0 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.