Early ALS/FTD Detection Using Biomarkers Reporting on TDP-43 Splicing Changes

Irwin KE, Jasin P, Braunstein KE, Sinha IR, Garret MA, Bowden KD, Chang K, Troncoso JC, Moghekar A, Oh ES, Raitcheva D, Bartlett D, Miller T, Berry JD, Traynor BJ, Ling JP, Wong PC. A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS-FTD. Nat Med. 2024 Jan 26. doi: 10.1038/s41591-023-02788-5. Epub ahead of print. PMID: 38278991.

Summary

This study from a team of researchers led by Dr. Phil Wong unveils a novel biomarker for early detection of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). It focuses on the loss of TDP-43 splicing repression, a key molecular change observed presymptomatically in ALS-FTD. Researchers developed a sensitive assay detecting the cryptic neoepitope in blood and cerebrospinal fluid, enabling earlier diagnosis and potentially improving clinical trial recruitment and monitoring. This breakthrough may significantly impact the understanding and management of ALS-FTD.

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