Biomarkers Overview is a topic within the NeuroWiki knowledge base covering aspects of neurodegenerative disease research and mechanisms.
This section covers biomarkers for neurodegenerative disease diagnosis, progression, and therapeutic response. Biomarkers play a critical role in enabling early detection, accurate diagnosis, disease staging, and monitoring of therapeutic efficacy in neurodegenerative diseases.[1]
The development of biomarkers for neurodegenerative diseases follows a systematic validation pathway from discovery through clinical implementation.[13]
The FDA has approved several neuroimaging biomarkers for clinical use, including amyloid PET tracers for Alzheimer's disease diagnosis and the Lumipulse CSF biomarker tests for AD pathology detection.[14]
The ATN (Amyloid, Tau, Neurodegeneration) framework provides a biological definition of AD based on biomarker profiles:[15]
Emerging fluid biomarkers include neurogranin (synaptic dysfunction), YKL-40 (neuroinflammation), and GFAP (astrogliosis).[16]
Biomarkers have transformed clinical trial design by enabling:[20]
Combining fluid, imaging, and digital biomarkers through machine learning approaches promises more accurate diagnosis and prognosis.[23]
Plasma p-tau217, p-tau181, and NfL are approaching clinical utility for screening and diagnosis, potentially enabling population-scale detection of neurodegeneration.[24]
Smartphone-based cognitive assessments, wearable sensors for motor symptoms, and voice analysis offer continuous monitoring capabilities.[25]
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Jack CR Jr, et al. NIA-AA Research Framework: Toward a biological definition of Alzheimer's disease. Alzheimer's & Dementia. 2018. ↩︎
Blennow K, et al. CSF biomarkers: pinpointing earliest signs of Alzheimer's disease. Lancet Neurology. 2015. ↩︎
Hampel H, et al. Tau biomarkers in Alzheimer's disease. Molecular Psychiatry. 2021. ↩︎
Khalil M, et al. Neurofilament light chain as a biological marker for neurological diseases. Lancet Neurology. 2018. ↩︎
Spires-Jones TL, et al. Alpha-synuclein: Pathology, biomarkers, and therapy. Nature Reviews Neurology. 2022. ↩︎
Vandenberghe R, et al. Amyloid PET in clinical practice. Journal of Neurology, Neurosurgery & Psychiatry. 2013. ↩︎
Lockhart SN, et al. Tau PET imaging: navigating complexity and new frontiers. Alzheimer's & Dementia. 2022. ↩︎
Mosconi L. FDG-PET: its role in the early diagnosis and differential diagnosis of Alzheimer's disease. Molecular Diagnosis & Therapy. 2005. ↩︎
Frisoni GB, et al. The clinical use of structural MRI in Alzheimer disease. Nature Reviews Neurology. 2010. ↩︎
Karch CM, Goate AM. Alzheimer's disease risk genes and mechanisms of disease pathogenesis. Biological Psychiatry. 2015. ↩︎
Cookson MR. LRRK2 pathways to Parkinson's disease. Journal of Parkinson's Disease. 2015. ↩︎
Baloh RH, et al. C9orf72, the gene encoding dipeptide repeat proteins. Nature Reviews Neurology. 2012. ↩︎
Forma EM, et al. Biomarker development for neurodegenerative diseases. Nature Reviews Drug Discovery. 2022. ↩︎
FDA. List of Cleared or Approved Companion Diagnostic Devices. ↩︎
Jack CR Jr, et al. ATN: An Alzheimer's disease classification system. Alzheimer's & Dementia. 2016. ↩︎
Milà-Alomà M, et al. CSF synaptic biomarkers in the preclinical and prodromal stages of Alzheimer's disease. Alzheimer's & Dementia. 2020. ↩︎
Fairfoul G, et al. Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies. Annals of Clinical and Translational Neurology. 2016. ↩︎
Parnetti L, et al. CSF and blood biomarkers for Parkinson's disease. Lancet Neurology. 2019. ↩︎
Benatar M, et al. Neurofilaments in ALS: a systematic review. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 2018. ↩︎
Cummings J, et al. Alzheimer's disease drug development pipeline: 2023. Alzheimer's & Dementia. 2023. ↩︎
Teunissen CE, et al. Consensus guidelines for CSF and blood biomarker collection and analysis. Molecular Psychiatry. 2015. ↩︎
丸川 暁, et al. Standardization of biomarker measurement and reporting. Lancet Neurology. 2017. ↩︎
Zhang D, et al. Multimodal machine learning for Alzheimer's disease diagnosis. Nature Reviews Neurology. 2021. ↩︎
Janelidze S, et al. Plasma P-tau181 in Alzheimer's disease. Brain. 2021. ↩︎
Artusi CA, et al. Digital biomarkers for Parkinson's disease. Journal of Neurology. 2020. ↩︎