Article
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.
Archives of neurology - 1 Dec 2005
Snider B Joy, Norton Joanne, Coats Mary A, Chakraverty Sumi, Hou Craig E, Jervis Ramiro, Lendon Corinne L, Goate Alison M, McKeel Daniel W, Morris John C
Abstract excerpt
BACKGROUND: Cases of early-onset Alzheimer disease (AD) with an autosomal dominant inheritance pattern (familial AD [FAD]) are rare but have greatly advanced our understanding of the molecular pathogenesis of AD. We describe herein a kindred with very early-onset FAD (age, <40 years) with unusual pathological features and a novel mutation in the presenilin 1 (PSEN1) gene (S170F) and review the existing literature...
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