Table 1

Demographic data, clinical symptoms and auxiliary examinations in all FFI patients

Total (N=131) (n/%)
DemographicsSex (F/M)57/72
Age of onset (years)47.51±12.53
Disease duration (months)13.20±9.04
Definite familial history107 (81.7%)
Clinical symptomsPrevalence of sleep-related symptoms119 (90.8%)
Prevalence of neuropsychiatric symptoms124 (94.7%)
Prevalence of progressive sympathetic symptoms95 (72.5%)
Genetic analysesD178N with 129 MM111 (84.7%)
D178N with 129 MV20 (15.3%)
Brain MRICerebral cortical atrophy26 (28.3%)
Hyperintense signals on DWI2 (2.2%)
EEGDiffusive excess of slow waves41 (40.6%)
Periodic spike discharges3 (3.0%)
PSGReduced durations of REM47 (90.4%)
Sleep-related involuntary movements20 (38.5%)
Sleep-related dyspnoea23 (44.2%)
Laryngeal stridor10 (19.2%)
PETHypometabolism in thalamus33 (78.6%)
SPECTInduced blood flow in thalamus8 (80.0%)
CSFPositive for 1433 protein20 (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.