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Light Chain Neurofilament to HDGFL2 cryptic peptide ratio as a fluid biomarker to monitor TDP-43 dysfunction in ALS and FTD

2026-01-02 neurology Title + abstract only
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TDP-43 proteinopathy is a neuropathological hallmark of nearly all amyotrophic lateral sclerosis (ALS) and approximately half of frontotemporal dementia (FTD) cases. Nuclear loss of TDP-43 leads to widespread RNA misprocessing, such as the inclusion of cryptic exons that are no longer repressed by TDP-43. Notably, in-frame cryptic exons encode novel cryptic peptides that can be detected in biofluids, including that found in the HDGFL2 transcript. Here, we quantified HDGFL2 cryptic peptide and ne...

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