Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype.


OBJECTIVE To report an ataxic variant of Alzheimer disease expressing a novel molecular phenotype. DESIGN Description of a novel phenotype associated with a presenilin 1 mutation. SETTING The subject was an outpatient who was diagnosed at the local referral center. PATIENT A 28-year-old man presented with psychiatric symptoms and cerebellar signs… (More)

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