Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease
The discovery of monogenic forms of Alzheimer's Disease (AD) associated with mutations within PSEN1, PSEN2, and APP genes is giving a big contribution in the understanding of the underpinning mechanisms of this complex disorder. Compared with sporadic form, the phenotype associated with monogen...
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| Format: | Online |
| Language: | English |
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Hindawi Publishing Corporation
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860086/ |
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pubmed-3860086 |
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pubmed-38600862013-12-29 Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease Pilotto, Andrea Padovani, Alessandro Borroni, Barbara Review Article The discovery of monogenic forms of Alzheimer's Disease (AD) associated with mutations within PSEN1, PSEN2, and APP genes is giving a big contribution in the understanding of the underpinning mechanisms of this complex disorder. Compared with sporadic form, the phenotype associated with monogenic cases is somewhat broader including behavioural disturbances, epilepsy, myoclonus, and focal presentations. Structural and functional imaging show typical early changes also in presymptomatic monogenic carriers. Amyloid imaging and CSF tau/Aβ ratio may be useful in the differential diagnosis with other neurodegenerative dementias, especially, in early onset cases. However, to date any specific biomarkers of different monogenic cases have been identified. Thus, in clinical practice, the early identification is often difficult, but the copresence of different elements could help in recognition. This review will focus on the clinical and instrumental markers useful for the very early identification of AD monogenic cases, pivotal in the development, and evaluation of disease-modifying therapy. Hindawi Publishing Corporation 2013 2013-11-27 /pmc/articles/PMC3860086/ /pubmed/24377094 http://dx.doi.org/10.1155/2013/689591 Text en Copyright © 2013 Andrea Pilotto et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Pilotto, Andrea Padovani, Alessandro Borroni, Barbara |
| spellingShingle |
Pilotto, Andrea Padovani, Alessandro Borroni, Barbara Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease |
| author_facet |
Pilotto, Andrea Padovani, Alessandro Borroni, Barbara |
| author_sort |
Pilotto, Andrea |
| title |
Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease |
| title_short |
Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease |
| title_full |
Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease |
| title_fullStr |
Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease |
| title_full_unstemmed |
Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease |
| title_sort |
clinical, biological, and imaging features of monogenic alzheimer's disease |
| description |
The discovery of monogenic forms of Alzheimer's Disease (AD) associated with mutations within PSEN1, PSEN2, and APP genes is giving a big contribution in the understanding of the underpinning mechanisms of this complex disorder. Compared with sporadic form, the phenotype associated with monogenic cases is somewhat broader including behavioural disturbances, epilepsy, myoclonus, and focal presentations. Structural and functional imaging show typical early changes also in presymptomatic monogenic carriers. Amyloid imaging and CSF tau/Aβ ratio may be useful in the differential diagnosis with other neurodegenerative dementias, especially, in early onset cases. However, to date any specific biomarkers of different monogenic cases have been identified. Thus, in clinical practice, the early identification is often difficult, but the copresence of different elements could help in recognition. This review will focus on the clinical and instrumental markers useful for the very early identification of AD monogenic cases, pivotal in the development, and evaluation of disease-modifying therapy. |
| publisher |
Hindawi Publishing Corporation |
| publishDate |
2013 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860086/ |
| _version_ |
1612037654410428416 |