| Hyperphosphorylation | Abnormal phosphorylation of tau protein reduces its ability to bind to microtubules, leading to microtubule destabilization and impaired axonal transport. |
| Aggregation | Mutant tau proteins have an increased tendency to form insoluble aggregates, including neurofibrillary tangles (NFTs), which are hallmark pathological features of FTD-17.[^7] |
| Tau isoform imbalance | Mutations affecting exon 10 splicing lead to an imbalance between 3R and 4R tau isoforms, disrupting normal tau function. |
| Early stage | Behavioral changes and mild cognitive impairment |
| Middle stage | Progressive dementia, motor symptoms become more prominent |
| Late stage | Severe cognitive decline, complete motor impairment, and eventual death |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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