Article
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.
Neuroscience letters - 10 Jan 2011
Ringman John M, Gylys Karen H, Medina Luis D, Fox Michelle, Kepe Vladimir, Flores Deborah L, Apostolova Liana G, Barrio Jorge R, Small Gary, Silverman Daniel H, Siu Erin, Cederbaum Stephen, Hecimovic Silva, Malnar Martina, Chakraverty Suma, Goate Alison M, Bird Thomas D, Leverenz James B
Abstract excerpt
Familial Alzheimer's disease (AD) due to PSEN1 mutations provides an opportunity to examine AD biomarkers in persons in whom the diagnosis is certain. We describe a 55 year-old woman with clinically probable AD and a novel PSEN1 mutation who underwent genetic, clinical, biochemical and magnetic resonance and nuclear imaging assessments. We also describe neuropathological findings in her similarly affected...
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