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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...

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Autores principales: Kalampokini, Stefania, Georgouli, Despoina, Patrikiou, Eleni, Provatas, Antonios, Valotassiou, Varvara, Georgoulias, Panagiotis, Spanaki, Cleanthe, Hadjigeorgiou, Georgios M., Xiromerisiou, Georgia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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