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Genetic analysis of genes associated with Mendelian dementia
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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Mattioli 1885
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023123/ https://www.ncbi.nlm.nih.gov/pubmed/33170157 http://dx.doi.org/10.23750/abm.v91i13-S.10602 |
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author | Dautaj, Astrit Mandarà, Luana Tassi, Vittorio Dhuli, Kristjana Bertelli, Matteo |
author_facet | Dautaj, Astrit Mandarà, Luana Tassi, Vittorio Dhuli, Kristjana Bertelli, Matteo |
author_sort | Dautaj, Astrit |
collection | PubMed |
description | 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. (www.actabiomedica.it) |
format | Online Article Text |
id | pubmed-8023123 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Mattioli 1885 |
record_format | MEDLINE/PubMed |
spelling | pubmed-80231232021-04-07 Genetic analysis of genes associated with Mendelian dementia Dautaj, Astrit Mandarà, Luana Tassi, Vittorio Dhuli, Kristjana Bertelli, Matteo Acta Biomed Review 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. (www.actabiomedica.it) Mattioli 1885 2020 2020-11-09 /pmc/articles/PMC8023123/ /pubmed/33170157 http://dx.doi.org/10.23750/abm.v91i13-S.10602 Text en Copyright: © 2020 ACTA BIO MEDICA SOCIETY OF MEDICINE AND NATURAL SCIENCES OF PARMA http://creativecommons.org/licenses/by-nc-sa/4.0 This work is licensed under a Creative Commons Attribution 4.0 International License |
spellingShingle | Review Dautaj, Astrit Mandarà, Luana Tassi, Vittorio Dhuli, Kristjana Bertelli, Matteo Genetic analysis of genes associated with Mendelian dementia |
title | Genetic analysis of genes associated with Mendelian dementia |
title_full | Genetic analysis of genes associated with Mendelian dementia |
title_fullStr | Genetic analysis of genes associated with Mendelian dementia |
title_full_unstemmed | Genetic analysis of genes associated with Mendelian dementia |
title_short | Genetic analysis of genes associated with Mendelian dementia |
title_sort | genetic analysis of genes associated with mendelian dementia |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023123/ https://www.ncbi.nlm.nih.gov/pubmed/33170157 http://dx.doi.org/10.23750/abm.v91i13-S.10602 |
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