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
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.