Literature DB >> 35645353

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

Paola Bisceglia1, Filomena Lo Vecchio1, Raffaela Rita Latino2, Carolina Gravina1, Maria Urbano1, Annamaria la Torre1, Gaetano Desina3, Antonio Greco1, Maurizio Leone2, Annibale Antonioni4.   

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.

Entities:  

Keywords:  Alzheimer’s disease; PSEN1; apolipoprotein E; beta-amyloid; mild cognitive impairment

Year:  2022        PMID： 35645353      PMCID： PMC9149895          DOI： 10.3390/neurolint14020034

Source DB:  PubMed          Journal:  Neurol Int        ISSN： 2035-8385


  22 in total

1.  A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation.

Authors:  Jing Dong; Wei Qin; Cuibai Wei; Yi Tang; Qi Wang; Jianping Jia
Journal:  J Alzheimers Dis       Date:  2017       Impact factor: 4.472

Review 2.  Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy.

Authors:  Chia-Chen Liu; Chia-Chan Liu; Takahisa Kanekiyo; Huaxi Xu; Guojun Bu
Journal:  Nat Rev Neurol       Date:  2013-01-08       Impact factor: 42.937

3.  2016 Alzheimer's disease facts and figures.

Authors: 
Journal:  Alzheimers Dement       Date:  2016-04       Impact factor: 21.566

Review 4.  Classification and basic pathology of Alzheimer disease.

Authors:  Charles Duyckaerts; Benoît Delatour; Marie-Claude Potier
Journal:  Acta Neuropathol       Date:  2009-04-21       Impact factor: 17.088

5.  Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau.

Authors:  M Goedert; C M Wischik; R A Crowther; J E Walker; A Klug
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

Review 6.  New criteria for Alzheimer disease and mild cognitive impairment: implications for the practicing clinician.

Authors:  Andrew E Budson; Paul R Solomon
Journal:  Neurologist       Date:  2012-11       Impact factor: 1.398

7.  Asymptomatic Carriers of Presenilin-1 E318G Variant Show no Cerebrospinal Fluid Biochemical Signs Suggestive of Alzheimer's disease in a Family with Late-onset Dementia.

Authors:  Vladimiro Artuso; Luisa Benussi; Roberta Ghidoni; Soraya Moradi-Bachiller; Federica Fusco; Stefano Curtolo; Ignazio Roiter; Gianluigi Forloni; Diego Albani
Journal:  Curr Alzheimer Res       Date:  2019       Impact factor: 3.498

8.  Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.

Authors:  L A Farrer; L A Cupples; J L Haines; B Hyman; W A Kukull; R Mayeux; R H Myers; M A Pericak-Vance; N Risch; C M van Duijn
Journal:  JAMA       Date:  1997 Oct 22-29       Impact factor: 56.272

9.  Presenilin E318G variant and Alzheimer's disease risk: the Cache County study.

Authors:  Ariel A Hippen; Mark T W Ebbert; Maria C Norton; JoAnn T Tschanz; Ronald G Munger; Christopher D Corcoran; John S K Kauwe
Journal:  BMC Genomics       Date:  2016-06-29       Impact factor: 3.969

10.  APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines.

Authors:  Xuewen Xiao; Hui Liu; Xixi Liu; Weiwei Zhang; Sizhe Zhang; Bin Jiao
Journal:  Front Aging Neurosci       Date:  2021-06-18       Impact factor: 5.750
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