Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)

Alzheimer’s disease (AD) is the most common cause of dementia worldwide. The clinical spectrum of suspected AD has been extended from mild cognitive impairment (MCI) to preclinical AD which includes people who have typical cognitive function but harbor the underlying biological features of AD. We re...

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Detalles Bibliográficos
Autores principales: Bisceglia, Paola, Lo Vecchio, Filomena, Latino, Raffaela Rita, Gravina, Carolina, Urbano, Maria, la Torre, Annamaria, Desina, Gaetano, Greco, Antonio, Leone, Maurizio, Antonioni, Annibale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149895/
https://www.ncbi.nlm.nih.gov/pubmed/35645353
http://dx.doi.org/10.3390/neurolint14020034
Descripción
Sumario:Alzheimer’s disease (AD) is the most common cause of dementia worldwide. The clinical spectrum of suspected AD has been extended from mild cognitive impairment (MCI) to preclinical AD which includes people who have typical cognitive function but harbor the underlying biological features of AD. We report the first case of an Italian patient affected by MCI (MMSE 24\30), characterized by a double mutation p.Lys311Arg (K311R) and p.Glu318Gly (E318G) in Presenilin-1 but with the absence of abnormal accumulation of amyloid beta.

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