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- W2087744138 abstract "Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD." @default.
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- W2087744138 date "2004-11-08" @default.
- W2087744138 modified "2023-10-17" @default.
- W2087744138 title "A presenilin 1 R278I mutation presenting with language impairment" @default.
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- W2087744138 doi "https://doi.org/10.1212/01.wnl.0000143060.98164.1a" @default.
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