Article ID Journal Published Year Pages File Type
1916475 Journal of the Neurological Sciences 2007 4 Pages PDF
Abstract

Two siblings fulfilling clinical diagnostic criteria for late-onset Alzheimer's disease (AD) are reported. The family history suggested a total of nine individuals affected with AD in three generations with autosomal dominant disease transmission. Neurogenetic testing of the proband revealed a mutation, R269H, in the presenilin-1 (PS1) gene. Late-onset AD may be associated with deterministic PS1 mutations; these should be sought when the family history suggests autosomal dominant disease transmission.

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