Parameter
| Biomarker | C9orf72 (G₄C₂) RE | Full name | C9orf72 Hexanucleotide (G₄C₂) Repeat Expansion | Molecular Type | Nucleic Acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Subtype Differentiation, Etiological Confirmation |
| Disease | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Long-Read Gene Sequencing, PCR, Digital PCR) | ||
| Pathobiological Mechanisms | Repeat expansion in the non-coding region produces toxic dipeptide repeat proteins such as poly(GP) through RAN translation, induces TDP-43 aggregation, and activates neuroinflammation. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | Accounts for 40% of familial FTD; CSF poly(GP) in carriers is 3.2 times higher than in healthy individuals, detectable 10 years in advance. | ||||