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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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
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author Bisceglia, Paola
Lo Vecchio, Filomena
Latino, Raffaela Rita
Gravina, Carolina
Urbano, Maria
la Torre, Annamaria
Desina, Gaetano
Greco, Antonio
Leone, Maurizio
Antonioni, Annibale
author_facet Bisceglia, Paola
Lo Vecchio, Filomena
Latino, Raffaela Rita
Gravina, Carolina
Urbano, Maria
la Torre, Annamaria
Desina, Gaetano
Greco, Antonio
Leone, Maurizio
Antonioni, Annibale
author_sort Bisceglia, Paola
collection PubMed
description 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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spelling pubmed-91498952022-05-31 Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G) Bisceglia, Paola Lo Vecchio, Filomena Latino, Raffaela Rita Gravina, Carolina Urbano, Maria la Torre, Annamaria Desina, Gaetano Greco, Antonio Leone, Maurizio Antonioni, Annibale Neurol Int Case Report 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. MDPI 2022-05-16 /pmc/articles/PMC9149895/ /pubmed/35645353 http://dx.doi.org/10.3390/neurolint14020034 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Bisceglia, Paola
Lo Vecchio, Filomena
Latino, Raffaela Rita
Gravina, Carolina
Urbano, Maria
la Torre, Annamaria
Desina, Gaetano
Greco, Antonio
Leone, Maurizio
Antonioni, Annibale
Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)
title Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)
title_full Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)
title_fullStr Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)
title_full_unstemmed Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)
title_short Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)
title_sort italian case report with a double mutation in psen1 (k311r and e318g)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149895/
https://www.ncbi.nlm.nih.gov/pubmed/35645353
http://dx.doi.org/10.3390/neurolint14020034
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