Evidence map›Paper›PMID 34830236›Full record

ReviewInternational journal of molecular sciences2021

Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.

Stefania Kalampokini, Despoina Georgouli, Eleni Patrikiou, Antonios Provatas, Varvara Valotassiou, Panagiotis Georgoulias, Cleanthe Spanaki, Georgios M Hadjigeorgiou, Georgia Xiromerisiou

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PubMed Full text at PMC Publisher
In one paragraph

Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 51% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 2 countries.

Stefania KalampokiniMedical School, University of Cyprus, Nicosia, Cyprus and Department of Neurology, General Hospital of Nicosia, Nicosia 2029, Cyprus.ORCID 0000-0003-4541-5384
Despoina GeorgouliDepartment of Neurology, University Hospital of Larissa, 41334 Larissa, Greece.ORCID 0000-0003-2896-7953
Eleni PatrikiouDepartment of Rheumatology and Clinical Immunology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41223 Larisa, Greece.
Antonios ProvatasDepartment of Neurology, University Hospital of Larissa, 41334 Larissa, Greece.
Varvara ValotassiouNuclear Medicine Laboratory, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.
Panagiotis GeorgouliasNuclear Medicine Laboratory, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.
Cleanthe SpanakiDepartment of Neurology, Medical School, University of Crete, 70013 Heraklion, Greece.
Georgios M HadjigeorgiouMedical School, University of Cyprus, Nicosia, Cyprus and Department of Neurology, General Hospital of Nicosia, Nicosia 2029, Cyprus.
Georgia XiromerisiouDepartment of Neurology, University Hospital of Larissa, 41334 Larissa, Greece.
University Hospital of Larissa · GRUniversity of Thessaly · GRNicosia General Hospital · CYUniversity of Crete · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer's disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric symptoms and progressive memory decline and was found to carry a novel APP variant, c.2062T>G pLeu688Val. A comprehensive literature review of all reported cases of AD due to APP mutations was performed in PubMed and Web of Science databases. We reviewed 98 studies with a total of 385 cases. The mean age of disease onset was 51.3 ± 8.3 (31-80 years). Mutations were most often located in exons 17 (80.8%) and 16 (12.2%). The most common symptoms were dementia, visuospatial symptoms, aphasia, epilepsy and psychiatric symptoms. Mutations in the β-amyloid region, and specifically exon 17, were associated with high pathogenicity and a younger age of disease onset. We describe the second reported APP mutation in the Greek population. APP mutations may act variably on disease expression and their phenotype is heterogeneous.

Indexed as

Point MutationAdultAgedAged, 80 and overAlzheimer DiseaseAmino Acid SubstitutionAmnesiaAmyloid beta-Protein PrecursorExonsFemaleGene ExpressionGreeceHumansMaleMiddle AgedNeuroimagingAmyloid beta-Protein PrecursorAPP protein, humanamyloid precursor proteinduplicationmutationphenotype

Identifiers

PMID34830236
PMCPMC8622139
OpenAlexW3212410020

What OpenQuestion holds

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Registered trials

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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.