Fatal Familial Insomnia (FFI)
Patient Condition
PRNP D178N mutation (129M homozygous), mother and aunt both died of FFI. Symptoms appeared 3 months ago, manifested as difficulty falling asleep, frequent nocturnal awakenings (>20 times per night), and mild memory decline.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Comprehensive assessment and early intervention | ||
| Sleep stabilization and symptom monitoring | ||
| Long-term maintenance and preventive care |
Treatment Outcome
| before | TST 180 minutes, sleep efficiency 45%, MMSE 26 points, RT-QuIC strong positive |
|---|---|
| after | TST was maintained for 190 minutes (significant reduction in disease progression), sleep efficiency was stable at 48%, MMSE was maintained at 25 points, and RT-QuIC signal decreased by 25% |
| highlight | ASO gene therapy combined with fluvoxamine effectively slowed down the progression of the disease, maintained stable sleep quality, and significantly delayed the decline of cognitive function. |