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552

Parameter
Biomarker TDP-43 Agg Full name TDP-43 Protein Aggregation (Phosphorylated/Truncated Form) Molecular Type Protein
Molecular Formula / Molecular Weight / Core Functional Dimensions Pathological Confirmation, Diagnosis
Disease Frontotemporal Dementia Disease Subtypes /
Organ Brain Test Sample / Technology Platform CSF/Skin Biopsy/Brain Biopsy (Western Blot, RT-QuIC, IP-MS)
Pathobiological Mechanisms Cytoplasmic aggregation forms inclusions, inhibits RNA metabolism, and induces neuronal apoptosis.
Clinical Availability Status Research stage (under clinical translation)
Notes and Dynamics 95% of FTD-TDP have this pathology; RT-QuIC detection has a sensitivity of 89% and specificity of 98%; the positive rate of skin biopsy is 72% in patients with disease duration <2 years.

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This study was supported by the Scientific Research Innovation Capability Support Project for Young Faculty (SRICSPYF-ZY2025112), the Fundamental and Interdisciplinary Disciplines Breakthrough Plan of the Ministry of Education of China (JYB2025XDXM612)

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