Petzold, Axel; (2023) Neurofilaments and Neurodegeneration. Presented at: 10th UK Pharmacogenetics & Stratified Medicine Network Annual Open Meeting, London, UK.

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Abstract

Neurofilament proteins (Nf) are currently the best validated body fluid biomarker for neurodegenerative pathology in humans. To help separating neurodegeneration of the central from the peripheral nervous system, new data on peripherin (PRPH) will presented to complementing the body of literature on the Nf light (NfL) and Nf heavy (NfH) chains. Mutations in the latter two Nf proteins also cause Amyotrophic Lateral Sclerosis and Charcot-Marie Tooth disease. With focus on this symposium at the interface between pharmacogenetics and stratified medicine, I will select clinical trial relevant Nf biomarker data from the large disease spectrum studied. The presentation will conclude with a discussion of the relevance of proteolytic breakdown products of Nf proteins and considerations for clinical trial design.

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