Alzheimer's disease other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
[[Genotyping]] for [[Apolipoprotein]] ([[APOE]]) ε-4, [[APOE]] ε-3, [[amyloid precursor protein]] (APP), [[presenilin]] [[PSEN1|PSEN]]1 and [[PSEN2|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== | ==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>. They are reserved for research purposes and for those with presenile dementia 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 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-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> | ||
* Genotyping for the following may be helpful in the diagnosis of AD and they are reserved with those having presenile/early-onset dementia <ref name="pmid28767121">{{cite journal| author=Bhaumik P, Ghosh P, Ghosh S, Feingold E, Ozbek U, Sarkar B et al.| title=Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births. | journal=Genet Mol Biol | year= 2017 | volume= 40 | issue= 3 | pages= 577-585 | pmid=28767121 | doi=10.1590/1678-4685-GMB-2016-0138 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28767121 }} </ref>and with the family history of AD: | [[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> | ||
* Genotyping for the following may be helpful in the diagnosis of AD and they are reserved with those having [[Presenile dementia|presenile]]/early-onset dementia <ref name="pmid28767121">{{cite journal| author=Bhaumik P, Ghosh P, Ghosh S, Feingold E, Ozbek U, Sarkar B et al.| title=Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births. | journal=Genet Mol Biol | year= 2017 | volume= 40 | issue= 3 | pages= 577-585 | pmid=28767121 | doi=10.1590/1678-4685-GMB-2016-0138 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28767121 }} </ref>and with the family history of AD: | |||
** Amyloid Precursor Protein (APP)<sup>†</sup> | ** Amyloid Precursor Protein (APP)<sup>†</sup> | ||
** Presenilin (PSEN) 1 and 2 genes<ref name="pmid28767121">{{cite journal| author=Bhaumik P, Ghosh P, Ghosh S, Feingold E, Ozbek U, Sarkar B et al.| title=Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births. | journal=Genet Mol Biol | year= 2017 | volume= 40 | issue= 3 | pages= 577-585 | pmid=28767121 | doi=10.1590/1678-4685-GMB-2016-0138 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28767121 }} </ref> | ** [[Presenilin 1|Presenilin]] (PSEN) 1 and 2 genes<ref name="pmid28767121">{{cite journal| author=Bhaumik P, Ghosh P, Ghosh S, Feingold E, Ozbek U, Sarkar B et al.| title=Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births. | journal=Genet Mol Biol | year= 2017 | volume= 40 | issue= 3 | pages= 577-585 | pmid=28767121 | doi=10.1590/1678-4685-GMB-2016-0138 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28767121 }} </ref> | ||
<sup>†</sup> APP is also activated by APOE<ref name="pmid28111074">{{cite journal| author=Huang YA, Zhou B, Wernig M, Südhof TC| title=ApoE2, ApoE3, and ApoE4 Differentially Stimulate APP Transcription and Aβ Secretion. | journal=Cell | year= 2017 | volume= 168 | issue= 3 | pages= 427-441.e21 | pmid=28111074 | doi=10.1016/j.cell.2016.12.044 | pmc=5310835 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28111074 }} </ref> | <sup>†</sup> APP is also activated by [[APOE]]<ref name="pmid28111074">{{cite journal| author=Huang YA, Zhou B, Wernig M, Südhof TC| title=ApoE2, ApoE3, and ApoE4 Differentially Stimulate APP Transcription and Aβ Secretion. | journal=Cell | year= 2017 | volume= 168 | issue= 3 | pages= 427-441.e21 | pmid=28111074 | doi=10.1016/j.cell.2016.12.044 | pmc=5310835 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28111074 }} </ref> | ||
==References== | ==References== | ||
Latest revision as of 15:52, 21 September 2017
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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:
‡ 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.