Parameter
| Biomarker | TARDBP Mut | Full name | TAR DNA-Binding Protein 43 Mutants | Molecular Type | Nucleic Acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Etiological Confirmation |
| Disease | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, Immunofluorescence) | ||
| Pathobiological Mechanisms | Mutations cause abnormal TDP-43 nuclear localization, cytoplasmic aggregation forms inclusions, and interferes with RNA splicing. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | Mutants mostly present as bvFTD, 45% have bulbar onset; CSF pTDP-43 is positively correlated with mutation load. | ||||