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

ABSTRACT: 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.

SUBMITTER: Bisceglia P

PROVIDER: S-EPMC9149895 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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

Bisceglia Paola P Lo Vecchio Filomena F Latino Raffaela Rita RR Gravina Carolina C Urbano Maria M la Torre Annamaria A Desina Gaetano G Greco Antonio A Leone Maurizio M Antonioni Annibale A

Neurology international 20220516 2

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 ...[more]

PMID: 35645353

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