Neurol. praxi. 2019;20(5):352-355 | DOI: 10.36290/neu.2019.140

Genetics of Alzheimer's Disease in Clinical Practice

MUDr. Martin Vyhnálek, Ph.D.1,2, MUDr. Emílie Vyhnálková, Ph.D.3, doc. MUDr. Jan Laczó, Ph.D.1,2
1 Kognitivní centrum, Neurologická klinika 2. LF UK a FN v Motole, Praha
2 Mezinárodní centrum klinického výzkumu, FN u sv. Anny v Brně
3 Ústav biologie a lékařské genetiky 2. LF UK a FN v Motole, Praha

Alzheimer's disease (AD) is the most common cause of dementia in elderly. Only a small proportion of cases is caused by pathogenic
variants in one of the AD associated genes – monogenic forms (autosomal dominant forms of AD). Most cases of late-onset
AD are considered to have multifactorial ethiology with a high contribution of hereditary component (up to 74 %). The paper
summarizes current knowledge about the genetic basis of AD, including recommendations for clinical practice.

Keywords: Alzheimer's disease, dementia, genetics, APOE, PSEN1, PSEN2, APP

Published: November 1, 2019  Show citation

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Vyhnálek M, Vyhnálková E, Laczó J. Genetics of Alzheimer's Disease in Clinical Practice. Neurol. praxi. 2019;20(5):352-355. doi: 10.36290/neu.2019.140.
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References

  1. Bird TD. Early-Onset Familial Alzheimer Disease. 1999 Sep 24 [updated 2012 Oct 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from http://www.ncbi.nlm.nih.gov/books/NBK1236/.
  2. Corbo RM, Scacchi R. Apolipoprotein E (APOE) allele distribution in the world. Is APOE*4 a 'thrifty' allele? Ann Hum Genet 1999; 63(Pt 4): 301-310. Go to original source... Go to PubMed...
  3. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993; 261(5123): 921-923. Go to original source... Go to PubMed...
  4. Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, Myers RH, Pericak-Vance MA, Risch N, van Duijn CM. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 1997; 278(16): 1349-1356. Go to original source...
  5. Gatz M, Pedersen NL, Berg S, Johansson B, Johansson K, Mortimer JA, Posner SF, Viitanen M, Winblad B, Ahlbom A. Heritability for Alzheimer's disease: the study of dementia in Swedish twins. J Gerontol A Biol Sci Med Sci. 1997 Mar; 52(2): M117-25. Go to original source... Go to PubMed...
  6. Head D, Bugg JM, Goate AM, Fagan AM, Mintun MA, Benzinger T, Holtzman DM, Morris JC. Exercise Engagement as a Moderator of the Effects of APOE Genotype on Amyloid Deposition. Arch Neurol. 2012; 69(5): 636-43. Go to original source... Go to PubMed...
  7. Hort J, Laczó J, Vyhnálek M. Alzheimerova nemoc. In: Rusina R, Matěj R, a kol. Neurodegenerativní onemocnění. Praha: Mladá fronta 2014: 100-110. ISBN 978-80-204-3300-8
  8. Jonsson T, Stefansson H, Steinberg S, Jonsdottir I, Jonsson PV, Snaedal J, Bjornsson S, Huttenlocher J, Levey AI, Lah JJ, Rujescu D, Hampel H, Giegling I, Andreassen OA, Engedal K, Ulstein I, Djurovic S, Ibrahim-Verbaas C, Hofman A, Ikram MA, van Duijn CM, Thorsteinsdottir U, Kong A, Stefansson K. Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med. 2013; 368(2): 107-116. Go to original source... Go to PubMed...
  9. Liddell MB, Lovestone S, Owen MJ. Genetic risk of Alzheimer's disease: advising relatives. Br J Psychiatry 2001; 178(1): 7-11. Go to original source... Go to PubMed...
  10. Mayeux R, Saunders AM, Shea S, Mirra S, Evans D, Roses AD, Hyman BT, Crain B, Tang MX, Phelps CH. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein Eand Alzheimer's Disease. N Engl J Med. 1998; 338(8): 506-11. Go to original source... Go to PubMed...
  11. Press D, Alexander M. Prevention of dementia, ed. UpToDate. Waltham, MA: UpToDate Inc. https://www.uptodate.com (Accessed on March 02, 2019).
  12. Risner ME, Saunders AM, Altman JF, Ormandy GC, Craft S, Foley IM, Zvartau-Hind ME, Hosford DA, Roses AD; Rosiglitazone in Alzheimer's Disease Study Group. Efficacy of rosiglitazone in a genetically defined population with mild-to-moderate Alzheimer's disease. Pharmacogenomics J. 2006; 6(4): 246-54. Epub 2006 Jan 31. Go to original source... Go to PubMed...
  13. Sherva R, Kowall N. Genetics of Alzheimer disease, ed. UpToDate. Waltham, MA: UpToDate Inc. https://www.uptodate.com (Accessed on March 02, 2019).
  14. Silverman JM, Smith CJ, Marin DB, Mohs RC, Propper CB. Familial patterns of risk in very late-onset Alzheimer disease. Arch Gen Psychiatry 2003; 60(2): 190-197. Go to original source... Go to PubMed...
  15. Van Cauwenberghe C, Van Broeckhoven C, Sleegers K. The genetic landscape of Alzheimer disease: clinical implications and perspectives. Genet Med. 2016; 18(5): 421-430. doi: 10.1038/gim.2015.117. Epub 2015 Aug 27. Go to original source... Go to PubMed...
  16. Wolk DA, Dickerson BC. Clinical features and diagnosis of Alzheimer disease, ed. UpToDate. Waltham, MA: UpToDate Inc. https://www.uptodate.com (Accessed on March 02, 2019).
  17. Zidovska J, Klempir J, Kebrdlová V, Uhrová T, Koblihová J, Anders M, Doubek P, Vevera J, Roth J. Huntington's disease: experience with genetic testing within 1994-2005. Ceska a Slovenska Neurologie a Neurochirurgie 2007; 70: 72-77.




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