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Clinical, Biological, and Imaging Features of Monogenic Alzheimer’s Disease
Joint Authors
Pilotto, Andrea
Borroni, Barbara
Padovani, Alessandro
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-11-27
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Pilotto, Andrea& Padovani, Alessandro& Borroni, Barbara. 2013. Clinical, Biological, and Imaging Features of Monogenic Alzheimer’s Disease. BioMed Research International،Vol. 2013, no. 2013, pp.1-9.
https://search.emarefa.net/detail/BIM-1004869
Modern Language Association (MLA)
Pilotto, Andrea…[et al.]. Clinical, Biological, and Imaging Features of Monogenic Alzheimer’s Disease. BioMed Research International No. 2013 (2013), pp.1-9.
https://search.emarefa.net/detail/BIM-1004869
American Medical Association (AMA)
Pilotto, Andrea& Padovani, Alessandro& Borroni, Barbara. Clinical, Biological, and Imaging Features of Monogenic Alzheimer’s Disease. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-9.
https://search.emarefa.net/detail/BIM-1004869
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1004869