Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges
Dementia with Lewy bodies (DLB) is one of the most common causes of dementia and belongs to the group of α-synucleinopathies. Due to its clinical overlap with other neurodegenerative disorders and its high clinical heterogeneity, the clinical differential diagnosis of DLB from other similar disorder...
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MDPI AG
2021-04-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/8/3960 |
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| author | Romina Combi Maria Salsone Chiara Villa Luigi Ferini-Strambi |
| author_facet | Romina Combi Maria Salsone Chiara Villa Luigi Ferini-Strambi |
| author_sort | Romina Combi |
| collection | DOAJ |
| description | Dementia with Lewy bodies (DLB) is one of the most common causes of dementia and belongs to the group of α-synucleinopathies. Due to its clinical overlap with other neurodegenerative disorders and its high clinical heterogeneity, the clinical differential diagnosis of DLB from other similar disorders is often difficult and it is frequently underdiagnosed. Moreover, its genetic etiology has been studied only recently due to the unavailability of large cohorts with a certain diagnosis and shows genetic heterogeneity with a rare contribution of pathogenic mutations and relatively common risk factors. The rapid increase in the reported cases of DLB highlights the need for an easy, efficient and accurate diagnosis of the disease in its initial stages in order to halt or delay the progression. The currently used diagnostic methods proposed by the International DLB consortium rely on a list of criteria that comprises both clinical observations and the use of biomarkers. Herein, we summarize the up-to-now reported knowledge on the genetic architecture of DLB and discuss the use of prodromal biomarkers as well as recent promising candidates from alternative body fluids and new imaging techniques. |
| first_indexed | 2024-03-10T12:24:38Z |
| format | Article |
| id | doaj.art-f56ca9fa824447b3bbf62a1080e32cb4 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T12:24:38Z |
| publishDate | 2021-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-f56ca9fa824447b3bbf62a1080e32cb42023-11-21T15:09:30ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-04-01228396010.3390/ijms22083960Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and ChallengesRomina Combi0Maria Salsone1Chiara Villa2Luigi Ferini-Strambi3School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalyInstitute of Molecular Bioimaging and Physiology, National Research Council, 20054 Segrate (MI), ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalyDepartment of Clinical Neurosciences, Neurology-Sleep Disorder Center, IRCCS San Raffaele Scientific Institute, 20127 Milan, ItalyDementia with Lewy bodies (DLB) is one of the most common causes of dementia and belongs to the group of α-synucleinopathies. Due to its clinical overlap with other neurodegenerative disorders and its high clinical heterogeneity, the clinical differential diagnosis of DLB from other similar disorders is often difficult and it is frequently underdiagnosed. Moreover, its genetic etiology has been studied only recently due to the unavailability of large cohorts with a certain diagnosis and shows genetic heterogeneity with a rare contribution of pathogenic mutations and relatively common risk factors. The rapid increase in the reported cases of DLB highlights the need for an easy, efficient and accurate diagnosis of the disease in its initial stages in order to halt or delay the progression. The currently used diagnostic methods proposed by the International DLB consortium rely on a list of criteria that comprises both clinical observations and the use of biomarkers. Herein, we summarize the up-to-now reported knowledge on the genetic architecture of DLB and discuss the use of prodromal biomarkers as well as recent promising candidates from alternative body fluids and new imaging techniques.https://www.mdpi.com/1422-0067/22/8/3960dementia with Lewy bodiesbiomarkergeneticsneuroimagingcerebrospinal fluidfunctional imaging |
| spellingShingle | Romina Combi Maria Salsone Chiara Villa Luigi Ferini-Strambi Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges International Journal of Molecular Sciences dementia with Lewy bodies biomarker genetics neuroimaging cerebrospinal fluid functional imaging |
| title | Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges |
| title_full | Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges |
| title_fullStr | Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges |
| title_full_unstemmed | Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges |
| title_short | Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges |
| title_sort | genetic architecture and molecular imaging and prodromic markers in dementia with lewy bodies state of the art opportunities and challenges |
| topic | dementia with Lewy bodies biomarker genetics neuroimaging cerebrospinal fluid functional imaging |
| url | https://www.mdpi.com/1422-0067/22/8/3960 |
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