Literature DB >> 33769990

Novel Presenilin-1 Mutation (Ala275Ser) Associated With Clinical Features of Dementia With Lewy Bodies.

Purwa Joshi1, McKinlay Gardner2,3, Caroline Lintott2, Tim Anderson1,4,5,6.   

Abstract

We report a case of familial dementia having some clinical features characteristic of dementia with Lewy bodies, in which a novel mutation Ala275Ser within the presenilin-1 (PSEN1) gene was identified. We review the association of PSEN1 mutation with dementia with Lewy bodies features, noting this to be an uncommonly reported observation.
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Year:  2021        PMID: 33769990     DOI: 10.1097/WAD.0000000000000444

Source DB:  PubMed          Journal:  Alzheimer Dis Assoc Disord        ISSN: 0893-0341            Impact factor:   2.703


  1 in total

1.  Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.

Authors:  Leonel Tadao Takada; Carmen Aláez-Verson; Bhagyashri D Burgute; Ricardo Nitrini; Ana Luisa Sosa; Raphael Machado Castilhos; Marcia Fagundes Chaves; Erika-Mariana Longoria; Karol Carrillo-Sánchez; Sonia Maria Dozzi Brucki; Luis Leonardo Flores-Lagunes; Carolina Molina; Marcos Jimenez Olivares; Ellen Ziegemeier; Jennifer Petranek; Alison M Goate; Carlos Cruchaga; Alan E Renton; Maria Victoria Fernández; Gregory S Day; Eric McDade; Randall J Bateman; Celeste M Karch; Jorge J Llibre-Guerra
Journal:  Alzheimers Res Ther       Date:  2022-08-05       Impact factor: 8.823

  1 in total

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