The Presenilin 1 P264L Mutation Presenting as non-Fluent/Agrammatic Primary Progressive Aphasia
نویسندگان
چکیده
منابع مشابه
The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.
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 f...
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متن کاملPresenilin-1 P264L knock-in mutation: differential effects on abeta production, amyloid deposition, and neuronal vulnerability.
The pathogenic mechanism linking presenilin-1 (PS-1) gene mutations to familial Alzheimer's disease (FAD) is uncertain, but has been proposed to include increased neuronal sensitivity to degeneration and enhanced amyloidogenic processing of the beta-amyloid precursor protein (APP). We investigated this issue by using gene targeting with the Cre-lox system to introduce an FAD-linked P264L mutati...
متن کاملThe non-fluent/agrammatic variant of primary progressive aphasia.
The non-fluent/agrammatic variant of primary progressive aphasia (naPPA) is a young-onset neurodegenerative disorder characterised by poor grammatical comprehension and expression and a disorder of speech sound production. In an era of disease-modifying treatments, the identification of naPPA might be an important step in establishing a specific cause of neurodegenerative disease. However, diff...
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ژورنال
عنوان ژورنال: Journal of Alzheimer's Disease
سال: 2013
ISSN: 1875-8908,1387-2877
DOI: 10.3233/jad-122092