Comparison between 129 MM and 129 MV genotypes in FFI patients
| 129 MM (N=111) (n/%) | 129 MV (N=20) (n/%) | P value | ||
| Demographics | Sex (F/M) | 51/58 | 6/134 | 0.096 |
| Age of onset (years) | 47.32±13.16 | 48.60±8.29 | 0.569 | |
| Disease duration (months) | 11.13±5.92 | 26.79±13.62 | 0.001* | |
| Definite familial history | 94 (84.7%) | 13 (65.0%) | 0.036* | |
| Clinical symptoms | Prevalence of sleep-related symptoms | 103 (92.8%) | 16 (80.0%) | 0.068 |
| Prevalence of neuropsychiatric symptoms | 106 (95.5%) | 18 (90.0%) | 0.314 | |
| Prevalence of progressive sympathetic symptoms | 86 (77.5%) | 9 (45.0%) | 0.003* | |
| Brain MRI | Cerebral cortical atrophy | 25 (30.5%) | 1 (10.0%) | 0.174 |
| Hyperintense signals on DWI | 2 (2.4%) | 0 | 0.618 | |
| EEG | Diffusive excess of slow waves | 37 (43.0%) | 4 (26.7%) | 0.234 |
| Periodic spike discharges | 0 | 3 (20.0%) | 0.000* | |
| PSG | Reduced durations of REM | 43 (89.6%) | 4 (100.0%) | 0.497 |
| Sleep-related involuntary movements | 20 (41.7%) | 0 | 0.100 | |
| Sleep related dyspnoea | 23 (47.9%) | 0 | 0.064 | |
| Laryngeal stridor | 10 (20.8%) | 0 | 0.163 | |
| PET | Hypometabolism in thalamus | 25 (78.1%) | 8 (80.0%) | 0.900 |
| SPECT | Induced blood flow in thalamus | 8 (88.9%) | 0 | 0.725 |
| CSF | Positive for 1433 protein | 18 (36.7%) | 2 (22.2%) | 0.400 |
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.
*Significant difference.
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.