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

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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Bibliographic Details
Main Authors: Stefania Kalampokini, Despoina Georgouli, Eleni Patrikiou, Antonios Provatas, Varvara Valotassiou, Panagiotis Georgoulias, Cleanthe Spanaki, Georgios M. Hadjigeorgiou, Georgia Xiromerisiou
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Molecular Sciences
Subjects:
amyloid precursor protein
mutation
duplication
phenotype
Online Access:https://www.mdpi.com/1422-0067/22/22/12355

Internet

https://www.mdpi.com/1422-0067/22/22/12355

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