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Journal of Alzheimer s Disease
Article . 2013 . Peer-reviewed
License: CC BY NC
Data sources: Crossref
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Journal of Alzheimer s Disease
Article
License: CC BY
Data sources: UnpayWall
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Journal of Alzheimer s Disease
Article . 2013
Data sources: mEDRA
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UCL Discovery
Article . 2013
Data sources: UCL Discovery
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The Presenilin 1 P264L Mutation Presenting as non-Fluent/Agrammatic Primary Progressive Aphasia

Authors: Mahoney, CJ; Downey, LE; Beck, J; Liang, Y; Mead, S; Perry, RJ; Warren, JD;

The Presenilin 1 P264L Mutation Presenting as non-Fluent/Agrammatic Primary Progressive Aphasia

Abstract

Primary progressive aphasia (PPA) represents a diverse group of language-led dementias most often due to frontotemporal lobar degeneration. We report clinical, neuropsychological, and neuroimaging data in the case of a 47-year-old woman presenting with non-fluent PPA due to a genetically confirmed pathogenic Presenilin 1 P264L mutation. This case highlights an unusual clinical presentation of familial Alzheimer's disease and a novel presentation of the P264L mutation. The case adds to accumulating evidence that particular mutations can promote specific brain network degeneration, with wider implications for understanding the sporadic forms of Alzheimer's disease and PPA.

Country
United Kingdom
Related Organizations
Keywords

Proline, Middle Aged, Hippocampus, Magnetic Resonance Imaging, Fluorodeoxyglucose F18, Leucine, Positron-Emission Tomography, Mutation, Presenilin-1, Humans, Female, Primary Progressive Nonfluent Aphasia

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    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    16
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
16
Top 10%
Average
Top 10%
Green
hybrid