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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oai:doaj.org-article:3669acedba894b228f0d6b2682ad72112021-11-25T17:55:39ZΤhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations10.3390/ijms2222123551422-00671661-6596https://doaj.org/article/3669acedba894b228f0d6b2682ad72112021-11-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/22/12355https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067Mutations 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.Stefania KalampokiniDespoina GeorgouliEleni PatrikiouAntonios ProvatasVarvara ValotassiouPanagiotis GeorgouliasCleanthe SpanakiGeorgios M. HadjigeorgiouGeorgia XiromerisiouMDPI AGarticleamyloid precursor proteinmutationduplicationphenotypeBiology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 12355, p 12355 (2021) |
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amyloid precursor protein mutation duplication phenotype Biology (General) QH301-705.5 Chemistry QD1-999 |
| spellingShingle |
amyloid precursor protein mutation duplication phenotype Biology (General) QH301-705.5 Chemistry QD1-999 Stefania Kalampokini Despoina Georgouli Eleni Patrikiou Antonios Provatas Varvara Valotassiou Panagiotis Georgoulias Cleanthe Spanaki Georgios M. Hadjigeorgiou Georgia Xiromerisiou Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations |
| 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 |
article |
| author |
Stefania Kalampokini Despoina Georgouli Eleni Patrikiou Antonios Provatas Varvara Valotassiou Panagiotis Georgoulias Cleanthe Spanaki Georgios M. Hadjigeorgiou Georgia Xiromerisiou |
| author_facet |
Stefania Kalampokini Despoina Georgouli Eleni Patrikiou Antonios Provatas Varvara Valotassiou Panagiotis Georgoulias Cleanthe Spanaki Georgios M. Hadjigeorgiou Georgia Xiromerisiou |
| author_sort |
Stefania Kalampokini |
| title |
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_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_sort |
τhe greek variant in app gene: the phenotypic spectrum of app mutations |
| publisher |
MDPI AG |
| publishDate |
2021 |
| url |
https://doaj.org/article/3669acedba894b228f0d6b2682ad7211 |
| work_keys_str_mv |
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| _version_ |
1718411794374983680 |