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Article

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

Alzheimer disease and associated disorders - 1 Jan 2000

Joshi Purwa, Gardner McKinlay, Lintott Caroline, Anderson Tim

Abstract excerpt

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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PMID: 33769990
DOI: 10.1097/WAD.0000000000000444

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