Genetic analysis of genes associated with Mendelian dementia

Main Article Content

Astrit Dautaj
Luana Mandarà
Vittorio Tassi
Kristjana Dhuli
Matteo Bertelli

Keywords

Mendelian dementia, Alzheimer disease, Parkinson disease

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.

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