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

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

Purwa Joshi, McKinlay Gardner, Caroline Lintott and Tim Anderson
Alzheimer disease and associated disorders, Vol.35(4), pp.350-352
01/10/2021
DOI: https://doi.org/10.1097/WAD.0000000000000444
Handle:
https://hdl.handle.net/10523/36688

Abstract

Clinical Neurology Life Sciences & Biomedicine Neurosciences & Neurology Pathology Science & Technology
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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