Genetic analysis of genes associated with Mendelian dementia

Acta Biomed. 2020 Nov 9;91(13-S):e2020004. doi: 10.23750/abm.v91i13-S.10602.

Abstract

Background and aim: Dementia is a disease associated with cognitive and/or behavioral changes that interfere with the ability to perform daily activities. Alzheimer's disease is the most common type of dementia. The aim of this mini-review is to summarize all the syndromes characterized by dementia and for which the associated gene is known.

Methods: We searched those syndromes in PubMed and OMIM database.

Results: Two forms of dementia exist: the multifactorial dementia results from the interaction of different genetic and environmental factors, the hereditary dementia associated with a single gene. Individuals with a family history of dementia and early onset of the disease are more likely to have a hereditary form of dementia. Dementias are mainly autosomal dominant, but they can also be autosomal recessive or X-linked.

Conclusions: Since dementia has high clinical and genetic heterogeneity, the use in diagnostics of a large panel of genes may greatly help to speed up the determination of the molecular diagnosis and/or establish a risk of recurrence in family members for the purpose of planning appropriate preventive and/or therapeutic measures.

Publication types

  • Review

MeSH terms

  • Alzheimer Disease* / genetics
  • Dementia* / genetics
  • Humans