Parameter
| Biomarker | MAPT Mut | Full name | Microtubule-Associated Protein Tau Mutants (R406W, V337M) | 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 (Gene Sequencing, Sanger Sequencing) | ||
| Pathobiological Mechanisms | Mutations cause abnormal tau phosphorylation, form neurofibrillary tangles, and disrupt microtubule stability. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | Mostly presents as bvFTD or nfvPPA, common in early onset (<50 years old); tau PET can visualize intracerebral tau aggregation. | ||||