HDGFL2-CE detects TDP-43 pathology in neurodegenerative diseases precisely

Summary: Aberrant accumulation of TDP-43 in neurodegenerative diseases affects RNA splicing, leading to cryptic exon inclusion. HDGFL2-CE, a novel protein, is detectable in cerebrospinal fluid and brain regions with TDP-43 pathology. An immunoassay detects HDGFL2-CE, distinguishing TDP-43 pathology in FTLD-TDP and AD-TDP cases. HDGFL2-CE associates with TDP-43 burden and can differentiate individuals with and without TDP-43 pathology, aiding in precision medicine strategies.

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