Biomarker discovery for Alzheimer's disease, frontotemporal lobar degeneration, and Parkinson's disease

William T. Hu, Alice Chen-Plotkin, Steven E. Arnold, Murray Grossman, Christopher M. Clark, Leslie M. Shaw, Leo McCluskey, Lauren Elman, Jason Karlawish, Howard I. Hurtig, Andrew Siderowf, Virginia M.Y. Lee, Holly Soares, John Q. Trojanowski

Research output: Contribution to journalReview articlepeer-review

74 Scopus citations


Ante-mortem diagnosis of neurodegenerative disorders based on clinical features alone is associated with variable sensitivity and specificity, and biomarkers can potentially improve the accuracy of clinical diagnosis. In patients suspected of having Alzheimer's disease (AD), alterations in cerebrospinal fluid (CSF) biomarkers that reflect the neuropathologic changes of AD strongly support the diagnosis, although there is a trade-off between sensitivity and specificity due to similar changes in cognitively healthy subjects. Here, we review the current approaches in using CSF AD biomarkers (total tau, p-tau181, and Aβ42) to predict the presence of AD pathology, and our recent work using multi-analyte profiling to derive novel biomarkers for biofluid-based AD diagnosis. We also review our use of the multi-analyte profiling strategy to identify novel biomarkers that can distinguish between subtypes of frontotemporal lobar degeneration, and those at risk of developing cognitive impairment in Parkinson's disease. Multi-analyte profiling is a powerful tool for biomarker discovery in complex neurodegenerative disorders, and analytes associated with one or more diseases may shed light on relevant biological pathways and potential targets for intervention.

Original languageEnglish (US)
Pages (from-to)385-399
Number of pages15
JournalActa Neuropathologica
Issue number3
StatePublished - Sep 2010
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience


  • Alzheimer's disease
  • Biomarker
  • Diagnosis
  • Frontotemporal dementia
  • Lewy bodies
  • TDP-43
  • Tau
  • Tauopathy


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