Extreme cerebrospinal fluid amyloid β levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation

@article{Kauwe2007ExtremeCF,
  title={Extreme cerebrospinal fluid amyloid $\beta$ levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation},
  author={John S.K. Kauwe and Sarah Jacquart and Sumi Chakraverty and Jun Wang and Kevin Mayo and Anne M. Fagan and David M. Holtzman and John C. Morris and Alison M. Goate},
  journal={Annals of Neurology},
  year={2007},
  volume={61}
}
Aggregation and deposition of amyloid beta (Aβ) in the brain is thought to be central to the pathogenesis of Alzheimer's disease (AD). Recent studies suggest that cerebrospinal fluid (CSF) Aβ levels are strongly correlated with AD status and progression, and may be a meaningful endophenotype for AD. Mutations in presenilin 1 (PSEN1) are known to cause AD and change Aβ levels. In this study, we have investigated DNA sequence variation in the presenilin (PSEN1) gene using CSF Aβ levels as an… 
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Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
  • A. Larner
  • Biology, Psychology
    Journal of Alzheimer's disease : JAD
  • 2013
TLDR
This article reviews publications on the clinical neurological phenotype of PSEN1 mutations published between October 2008 and April 2013 and integrates this information with previous reviews to produce tabular summaries of phenotype and genotype.
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