| Exon 1 mutations (R79C, R79H) | Most common cause of infantile form — disrupts the N-terminal head domain critical for filament assembly |
| Exon 4 mutations (R239C, R239H) | Variable onset, often juvenile |
| Exon 5-6 mutations (L350P, R416W) | Associated with adult form |
| Exon 8 hotspot (c.806+1G>A splice site) | Common in adult-onset cases |
| C-terminal mutations | Disrupt filament assembly and cause more severe disease |
| Splice site mutations | Variable, depends on effect on splicing |
| GFAP | Primary structural protein, mutant form aggregates |
| Alpha B-crystallin (CRYAB) | Co-aggregates in Rosenthal fibers, mutation in GFAP causes its recruitment |
| DJ-1 (PARK7) | Stress protein recruited to Rosenthal fibers — links to PD pathways |
| Vimentin | Intermediate filament co-expressed during development, co-aggregates |
| Kir4.1 (KCNJ10) | Potassium channel lost from astrocyte membranes in AxD |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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