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Kalampokini S, Georgouli D, Patrikiou E, et al. Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations. Int J Mol Sci. 2021;22(22)doi: 10.3390/ijms222212355.
Kalampokini, S., Georgouli, D., Patrikiou, E., Provatas, A., Valotassiou, V., Georgoulias, P., Spanaki, C., Hadjigeorgiou, G. M., & Xiromerisiou, G. (2021). Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations. International journal of molecular sciences, 22(22), . https://doi.org/10.3390/ijms222212355
Kalampokini, Stefania, et al. "Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations." International journal of molecular sciences vol. 22,22 (2021). doi: https://doi.org/10.3390/ijms222212355
Kalampokini S, Georgouli D, Patrikiou E, Provatas A, Valotassiou V, Georgoulias P, Spanaki C, Hadjigeorgiou GM, Xiromerisiou G. Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations. Int J Mol Sci. 2021 Nov 16;22(22). doi: 10.3390/ijms222212355. PMID: 34830236; PMCID: PMC8622139.
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Int J Mol Sci. 2021 Nov 16;22(22). doi: 10.3390/ijms222212355.

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

International journal of molecular sciences

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

Affiliations

  1. Medical School, University of Cyprus, Nicosia, Cyprus and Department of Neurology, General Hospital of Nicosia, Nicosia 2029, Cyprus.
  2. Department of Neurology, University Hospital of Larissa, 41334 Larissa, Greece.
  3. Department of Rheumatology and Clinical Immunology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41223 Larisa, Greece.
  4. Nuclear Medicine Laboratory, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.
  5. Department of Neurology, Medical School, University of Crete, 70013 Heraklion, Greece.

PMID: 34830236 PMCID: PMC8622139 DOI: 10.3390/ijms222212355

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.

Keywords: amyloid precursor protein; duplication; mutation; phenotype

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