Parameter
| Biomarker | FUS Mut (R521C) | Full name | Fused in Sarcoma Mutants (R521C) | Molecular Type | Nucleic Acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Subtype Differentiation |
| Disease | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, WB) | ||
| Pathobiological Mechanisms | Mutations cause FUS misfolding, cytoplasmic aggregation, and inhibit autophagic clearance. | ||||
| Clinical Availability Status | Research stage | ||||
| Notes and Dynamics | Early onset (<45 years old) is predominant, accompanied by rapid frontotemporal gray matter atrophy; CSF FUS reflects disease activity. | ||||