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, Early Warning |
| Disease | Amyotrophic Lateral Sclerosis | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Long-Read Gene Sequencing, PCR) | ||
| Pathobiological Mechanisms | Repeat sequences produce toxic dipeptide repeat proteins (e.g., poly-GP) through RAN translation, induce TDP-43 aggregation, and activate neuroinflammation. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | CSF poly-GP levels in mutation carriers are 3.2 times higher than in healthy individuals, detectable 10 years in advance; positively correlated with the incidence of cognitive impairment. | ||||