Neuropsychology Review

, Volume 25, Issue 1, pp 113–124 | Cite as

Genetics and Underlying Pathology of Dementia

  • Beata Ferencz
  • Lotte GerritsenEmail author


As the population steadily ages, dementia, in all its forms, remains a great societal challenge. Yet, our knowledge of their etiology remains rather limited. To this end, genetic studies can give us insight into the underlying mechanisms that lead to the development of dementia, potentially facilitating treatments in the future. In this review we cover the most recent genetic risk factors associated with the onset of the four most common dementia types today, including Alzheimer’s disease (AD), Vascular Dementia (VaD), Frontotemporal Lobar Degeneration (FTLD) and Lewy Body Dementia (LBD). Moreover, we discuss the overlap in major underlying pathologies of dementia derived from their genetic associations. While all four dementia types appear to involve genes associated with tau-pathology and neuroinflammation only LBD, AD and VaD appear to involve amyloid genes while LBD and FTLD share alpha synuclein genes. Together these findings suggest that some of the dementias may exist along a spectrum and demonstrates the necessity to conduct large-scale studies pinpointing the etiology of the dementias and potential gene and environment interactions that may influence their development.


Genetics Dementia Alzheimer’s disease Lewy body dementia Vascular dementia Frontotemporal lobar degeneration 


Financial Disclosures

LG is supported by a Marie Curie intra-European Fellowship of the European Community’s Seventh Framework Programme under contract number PIEF-GA-2011-300355 and a Veni grant (ZonMW 916-14-016) from the Netherlands Organisation for Scientific Research. BF is supported by Gamla Tjänarinnor, Sigurd och Elsa Goljes minne, the Swedish Research Council, the Swedish Research Council for Health Working Life and Welfare as well as a donation from the af Jochnick Foundation.


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Aging Research Center (ARC)Karolinska Institutet and Stockholm UniversityStockholmSweden
  2. 2.Department of PsychiatryVU Medical Center AmsterdamAmsterdamThe Netherlands
  3. 3.Department of Medical Epidemiology and BiostatisticsKarolinska InstitutetStockholmSweden

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