Longitudinal change in CSF biomarkers in a presymptomatic carrier of an APP mutation
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Persons inheriting fully penetrant autosomal dominant mutations causing familial Alzheimer disease (AD) provide the opportunity to characterize presymptomatic biomarker changes in a population where studies might be performed to efficiently identify preventative interventions. Decreased Aβ42 and increased total tau (t-tau) and phosphorylated tau (p-tau) in CSF are associated with incident1 and established AD.2 These markers have been increasingly incorporated as outcome measures for clinical trials, but further characterization of their natural course is necessary to interpret such studies. Though longitudinal changes in these markers are expected for individuals developing AD, such changes have yet to be thoroughly documented prospectively. Here we report changes in AD CSF biomarkers over time in a presymptomatic carrier of the V717I mutation in the amyloid precursor protein (APP) gene.3
Methods.
Due to confidentiality issues, the gender and chronological age of this individual are not disclosed. As the age of disease onset can be consistent within families harboring this APP mutation,3 we report the individual's age relative to the median age of dementia diagnosis within their family. The subject was enrolled in a UCLA institutional review board– approved study of persons at risk for …
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