Patient Condition
Portatore della mutazione PRNP D178N (presintomatica), fratello con diagnosi di FFI avanzata. Asintomatica ma gene-positiva, cercando terapia genica preventiva. Baseline PSG TST 360 min (normale), MoCA 29. RT-QuIC debole positivo.
Treatment Timeline
| Phase | Details | Date |
|---|
| Genetic counseling and baseline assessment | | |
| Preventive monitoring and lifestyle optimization | | |
| Long-term surveillance and early intervention preparation | | |
Treatment Outcome
| before | TST 360分钟（正常），MoCA 29分，RT-QuIC弱阳性，无症状 |
|---|
| after | TST维持355分钟（完全正常），MoCA 29分，RT-QuIC转阴，12个月观察期内未出现任何FFI症状 |
|---|
| highlight | 作为预防性ASO基因治疗试验参与者，成功维持了正常睡眠和认知功能，RT-QuIC转阴提示朊蛋白聚集被有效抑制，为FFI预防治疗提供了突破性证据 |
|---|