Table 5

Comparison between 129 MM and 129 MV genotypes in FFI patients

129 MM (N=111) (n/%)129 MV (N=20) (n/%)P value
DemographicsSex (F/M)51/586/1340.096
Age of onset (years)47.32±13.1648.60±8.290.569
Disease duration (months)11.13±5.9226.79±13.620.001*
Definite familial history94 (84.7%)13 (65.0%)0.036*
Clinical symptomsPrevalence of sleep-related symptoms103 (92.8%)16 (80.0%)0.068
Prevalence of neuropsychiatric symptoms106 (95.5%)18 (90.0%)0.314
Prevalence of progressive sympathetic symptoms86 (77.5%)9 (45.0%)0.003*
Brain MRICerebral cortical atrophy25 (30.5%)1 (10.0%)0.174
Hyperintense signals on DWI2 (2.4%)00.618
EEGDiffusive excess of slow waves37 (43.0%)4 (26.7%)0.234
Periodic spike discharges03 (20.0%)0.000*
PSGReduced durations of REM43 (89.6%)4 (100.0%)0.497
Sleep-related involuntary movements20 (41.7%)00.100
Sleep related dyspnoea23 (47.9%)00.064
Laryngeal stridor10 (20.8%)00.163
PETHypometabolism in thalamus25 (78.1%)8 (80.0%)0.900
SPECTInduced blood flow in thalamus8 (88.9%)00.725
CSFPositive for 1433 protein18 (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.