Article
The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.
Journal of Alzheimer's disease : JAD - 1 Jan 2013
Mahoney Colin J, Downey Laura E, Beck Jon, Liang Yuying, Mead Simon, Perry Richard J, Warren Jason D
Abstract excerpt
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...
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