Demographic data, clinical symptoms and auxiliary examinations in all FFI patients
| Total (N=131) (n/%) | ||
| Demographics | Sex (F/M) | 57/72 |
| Age of onset (years) | 47.51±12.53 | |
| Disease duration (months) | 13.20±9.04 | |
| Definite familial history | 107 (81.7%) | |
| Clinical symptoms | Prevalence of sleep-related symptoms | 119 (90.8%) |
| Prevalence of neuropsychiatric symptoms | 124 (94.7%) | |
| Prevalence of progressive sympathetic symptoms | 95 (72.5%) | |
| Genetic analyses | D178N with 129 MM | 111 (84.7%) |
| D178N with 129 MV | 20 (15.3%) | |
| Brain MRI | Cerebral cortical atrophy | 26 (28.3%) |
| Hyperintense signals on DWI | 2 (2.2%) | |
| EEG | Diffusive excess of slow waves | 41 (40.6%) |
| Periodic spike discharges | 3 (3.0%) | |
| PSG | Reduced durations of REM | 47 (90.4%) |
| Sleep-related involuntary movements | 20 (38.5%) | |
| Sleep-related dyspnoea | 23 (44.2%) | |
| Laryngeal stridor | 10 (19.2%) | |
| PET | Hypometabolism in thalamus | 33 (78.6%) |
| SPECT | Induced blood flow in thalamus | 8 (80.0%) |
| CSF | Positive for 1433 protein | 20 (34.5%) |
For frequency calculation, the number of patients with abnormalities was the numerator. For calculation of the positive rate of clinical symptoms, the number of all patients was the denominator. When calculating the positive rate of auxiliary examination, the number of patients who completed each type of test was the denominator.
CSF, cerebrospinal fluid; DWI, diffusion-weighted imaging; EEG, electroencephalogram; F, female; FFI, fatal familial insomnia; M, male; PET, positron emission tomography; PSG, polysomnography; REM, rapid eye movement; SPECT, single-photon emission CT.