Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.
Adult
Aged
Aged, 80 and over
Alzheimer Disease
/ complications
Amino Acid Substitution
Amnesia
/ complications
Amyloid beta-Protein Precursor
/ genetics
Exons
Female
Gene Expression
Greece
Humans
Male
Middle Aged
Neuroimaging
/ methods
Point Mutation
Psychotic Disorders
/ complications
Seizures
/ complications
amyloid precursor protein
duplication
mutation
phenotype
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
16 Nov 2021
16 Nov 2021
Historique:
received:
26
09
2021
revised:
11
11
2021
accepted:
13
11
2021
entrez:
27
11
2021
pubmed:
28
11
2021
medline:
17
12
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34830236
pii: ijms222212355
doi: 10.3390/ijms222212355
pmc: PMC8622139
pii:
doi:
Substances chimiques
APP protein, human
0
Amyloid beta-Protein Precursor
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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