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Review
. 2021 Apr 27;10(5):1030.
doi: 10.3390/cells10051030.

Genetic and Transcriptomic Biomarkers in Neurodegenerative Diseases: Current Situation and the Road Ahead

Julie Lake  1 , Catherine S Storm  2   3 , Mary B Makarious  1 , Sara Bandres-Ciga  1
Affiliations
Review

Genetic and Transcriptomic Biomarkers in Neurodegenerative Diseases: Current Situation and the Road Ahead

Julie Lake et al. Cells. .

Abstract

Neurodegenerative diseases are etiologically and clinically heterogeneous conditions, often reflecting a spectrum of disease rather than well-defined disorders. The underlying molecular complexity of these diseases has made the discovery and validation of useful biomarkers challenging. The search of characteristic genetic and transcriptomic indicators for preclinical disease diagnosis, prognosis, or subtyping is an area of ongoing effort and interest. The next generation of biomarker studies holds promise by implementing meaningful longitudinal and multi-modal approaches in large scale biobank and healthcare system scale datasets. This work will only be possible in an open science framework. This review summarizes the current state of genetic and transcriptomic biomarkers in Parkinson's disease, Alzheimer's disease, and amyotrophic lateral sclerosis, providing a comprehensive landscape of recent literature and future directions.

Keywords: Alzheimer’s disease; Parkinson’s disease; amyotrophic lateral sclerosis; biomarkers; genetics; transcriptomics.

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Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Biomarkers Definitions Working Group Biomarkers and Surrogate Endpoints: Preferred Definitions and Conceptual Framework. Clin. Pharmacol. Ther. 2001;69:89–95. doi: 10.1067/mcp.2001.113989. - DOI - PubMed
    1. Gasser T. Genomic and Proteomic Biomarkers for Parkinson Disease. Neurology. 2009;72:S27–S31. doi: 10.1212/WNL.0b013e318198e054. - DOI - PubMed
    1. Rizzo G., Copetti M., Arcuti S., Martino D., Fontana A., Logroscino G. Accuracy of Clinical Diagnosis of Parkinson Disease: A Systematic Review and Meta-Analysis. Neurology. 2016;86:566–576. doi: 10.1212/WNL.0000000000002350. - DOI - PubMed
    1. Armstrong M.J., Okun M.S. Diagnosis and Treatment of Parkinson Disease: A Review. JAMA. 2020;323:548–560. doi: 10.1001/jama.2019.22360. - DOI - PubMed
    1. Parnetti L., Gaetani L., Eusebi P., Paciotti S., Hansson O., El-Agnaf O., Mollenhauer B., Blennow K., Calabresi P. CSF and Blood Biomarkers for Parkinson’s Disease. Lancet Neurol. 2019;18:573–586. doi: 10.1016/S1474-4422(19)30024-9. - DOI - PubMed

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