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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.

SUBMITTER: Mahoney CJ 

PROVIDER: S-EPMC4041608 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.

Mahoney Colin J CJ   Downey Laura E LE   Beck Jon J   Liang Yuying Y   Mead Simon S   Perry Richard J RJ   Warren Jason D JD  

Journal of Alzheimer's disease : JAD 20130101 2


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 accumulati  ...[more]

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