title: 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.
authors.affiliation: Dementia Research Centre, UCL Institute of Neurology, London, UK.
authors.forename: Colin J
authors.initials: CJ
authors.lastname: Mahoney
authors.forename: Laura E
authors.initials: LE
authors.lastname: Downey
authors.forename: Jon
authors.initials: J
authors.lastname: Beck
authors.forename: Yuying
authors.initials: Y
authors.lastname: Liang
authors.forename: Simon
authors.initials: S
authors.lastname: Mead
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Perry
authors.forename: Jason D
authors.initials: JD
authors.lastname: Warren
mesh_terms: D005260:Female; D019788:Fluorodeoxyglucose F18; D006624:Hippocampus / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D049268:Positron-Emission Tomography; D053764:Presenilin-1 / Q000235:genetics*; D057178:Primary Progressive Nonfluent Aphasia / Q000235:genetics*; D011392:Proline / Q000235:genetics*
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1; D019788:Fluorodeoxyglucose F18; D011392:Proline; D007930:Leucine