ReviewBioMed research international2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Review in BioMed research international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 45 citations in OpenAlex.
- Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.Alzheimer's research & therapy · 2025Article
- Special Issue: The Role of Genetics in Dementia.International journal of molecular sciences · 2025Article
- Young-Onset Alzheimer Dementia Due to a Novel PathogenicNeurology(R) neuroimmunology & neuroinflammation · 2024Article
- Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy.International journal of molecular sciences · 2024Article
- Molecular neuroimaging in dominantly inherited versus sporadic early-onset Alzheimer's disease.Brain communications · 2024Article
- Immortalized Alzheimer's Disease Astrocytes: Characterization of Their Proteolytic Systems.Molecular neurobiology · 2023Article
- Modeling of Neurodegenerative Diseases: 'Step by Step' and 'Network' Organization of the Complexes of Model Systems.International journal of molecular sciences · 2022Review
- A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer's Disease.International journal of molecular sciences · 2022Article
- Article
- Psychiatric and Psychosocial Characteristics of a Cohort of Spanish Individuals Attending Genetic Counseling Due to Risk for Genetically Conditioned Dementia.Journal of Alzheimer's disease reports · 2022Article
- Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.International journal of molecular sciences · 2021Review
- Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders.Journal of personalized medicine · 2021Review
- Visuomotor integration deficits are common to familial and sporadic preclinical Alzheimer's disease.Brain communications · 2021Article
- Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation.Cerebellum (London, England) · 2020Article
- Genetic architecture of Alzheimer's disease.Neurobiology of disease · 2020Review
- New Insights into the Molecular Bases of Familial Alzheimer's Disease.Journal of personalized medicine · 2020Review
- A pathogenicClinical interventions in aging · 2018Article
- Myoclonic Disorders.Brain sciences · 2017Review
- Dissecting Alzheimer disease in Down syndrome using mouse models.Frontiers in behavioral neuroscience · 2015Review
- Clinical workout for the early detection of cognitive decline and dementia.European journal of clinical nutrition · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.