Clinical, biological, and imaging features of monogenic Alzheimer’s disease
Open accessAbstract
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/A β 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.
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Molecular genetics of early-onset Alzheimer’s disease revisited
Cacace, R., Sleegers, K., & Van Broeckhoven, C. (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.01.012 · Cited by 617 · see citing works
Genetic architecture of Alzheimer's disease
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“The effect of PSEN2 mutations is more variable than either PSEN1 or APP mutations, with age of onset in PSEN2 mutation carriers ranging from 40 to 85 years of age [50, 51].”
Background
- Authors
- Pilotto, A., Padovani, A., & Borroni, B.
- Affiliations
- University of Brescia (IT)
- Corresponding author
- Borroni, Barbara
- Venue
- BioMed Research International
- Publisher
- Wiley
- Published
- 2013
- Volume
- 2013
- Pages
- 1-9
- ISSN
- 1110-7243 (ISSN-L)
- 2314-6133
- 2314-6141
- PMC
- PMC3860086
- OpenAlex
- W2055373527
- Cited by
- 47
- References
- 106
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 10 · 2023: 4 · 2022: 7 · 2021: 4 · 2020: 6 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 2 · 2015: 3 · 2014: 2
- FWCI
- 0.26
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- BioMed Research International (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- PSEN1 mutations, PSEN2 mutations, APP mutations, presymptomatic carriers, amyloid imaging, differential diagnosis of dementia, early-onset Alzheimer's disease, behavioral problems, epilepsy, myoclonus, disease-modifying therapy, biomarkers
- MeSH terms
- Alzheimer Disease, Dementia, Diagnosis, Differential, Humans, Mutation, Biomarkers, Amyloid beta-Peptides, Amyloid beta-Protein Precursor, tau Proteins, Presenilin-1, Presenilin-2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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