Cited by 47Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Clinical, biological, and imaging features of monogenic Alzheimer’s disease

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Pilotto, Andrea, Padovani, Alessandro, Borroni, Barbara·2013·BioMed Research International

Abstract

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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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
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
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

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