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Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations
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 var...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622139/ https://www.ncbi.nlm.nih.gov/pubmed/34830236 http://dx.doi.org/10.3390/ijms222212355 |
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author | Kalampokini, Stefania Georgouli, Despoina Patrikiou, Eleni Provatas, Antonios Valotassiou, Varvara Georgoulias, Panagiotis Spanaki, Cleanthe Hadjigeorgiou, Georgios M. Xiromerisiou, Georgia |
author_facet | Kalampokini, Stefania Georgouli, Despoina Patrikiou, Eleni Provatas, Antonios Valotassiou, Varvara Georgoulias, Panagiotis Spanaki, Cleanthe Hadjigeorgiou, Georgios M. Xiromerisiou, Georgia |
author_sort | Kalampokini, Stefania |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8622139 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-86221392021-11-27 Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations Kalampokini, Stefania Georgouli, Despoina Patrikiou, Eleni Provatas, Antonios Valotassiou, Varvara Georgoulias, Panagiotis Spanaki, Cleanthe Hadjigeorgiou, Georgios M. Xiromerisiou, Georgia Int J Mol Sci Review 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. MDPI 2021-11-16 /pmc/articles/PMC8622139/ /pubmed/34830236 http://dx.doi.org/10.3390/ijms222212355 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Kalampokini, Stefania Georgouli, Despoina Patrikiou, Eleni Provatas, Antonios Valotassiou, Varvara Georgoulias, Panagiotis Spanaki, Cleanthe Hadjigeorgiou, Georgios M. Xiromerisiou, Georgia Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations |
title | Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations |
title_full | Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations |
title_fullStr | Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations |
title_full_unstemmed | Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations |
title_short | Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations |
title_sort | τhe greek variant in app gene: the phenotypic spectrum of app mutations |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622139/ https://www.ncbi.nlm.nih.gov/pubmed/34830236 http://dx.doi.org/10.3390/ijms222212355 |
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