Parameter
| Biomarker | GRN Mut | Full name | Progranulin Mutants | Molecular Type | Nucleic Acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Etiological Confirmation, Disease Monitoring |
| Disease | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, PCR) | ||
| Pathobiological Mechanisms | Mutations cause progranulin haploinsufficiency, inhibit microglial phagocytosis, and enhance neuroinflammation. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | Plasma progranulin <15ng/mL suggests mutation, closely associated with svPPA and rtvFTD; anti-sortilin monoclonal antibodies can increase its levels. | ||||