1. Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.
- Author
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Kalampokini S, Georgouli D, Patrikiou E, Provatas A, Valotassiou V, Georgoulias P, Spanaki C, Hadjigeorgiou GM, and Xiromerisiou G
- Subjects
- Adult, Aged, Aged, 80 and over, Alzheimer Disease complications, Alzheimer Disease diagnostic imaging, Alzheimer Disease pathology, Amino Acid Substitution, Amnesia complications, Amnesia diagnostic imaging, Amnesia pathology, Exons, Female, Gene Expression, Greece, Humans, Male, Middle Aged, Neuroimaging methods, Psychotic Disorders complications, Psychotic Disorders diagnostic imaging, Psychotic Disorders pathology, Seizures complications, Seizures diagnostic imaging, Seizures pathology, Alzheimer Disease genetics, Amnesia genetics, Amyloid beta-Protein Precursor genetics, Point Mutation, Psychotic Disorders genetics, Seizures genetics
- 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.
- Published
- 2021
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