Cerebral cortex swelling in V180I genetic Creutzfeldt–Jakob disease: comparative imaging study between sporadic and V180I genetic Creutzfeldt–Jakob disease in the early stage

Figures & data

Table 1. Comparison of the clinical features between V180I and sporadic Creutzfeldt-Jakob disease (sCJD).

Features	V180I	sCJD	p value
Codon 129 (MM/MV)^a	5/7	20/3	0.015
Sex (male/female)^b	8/4	11/12	0.288
Age upon MRI (years, mean ± SD)^c	80.0 ± 3.7	73.2 ± 10.8	0.015
Disease duration (months, median, range)^d	3.0 (1–31)	2.0 (1–26)	0.400
Symptoms and signs upon MRI
Akinetic mutism (n, %)^a	1/12 (8.3)	2/23 (8.7)	0.971
Myoclonus (n, %)^b	3/12 (25.0)	12/23 (52.2)	0.123
Cognitive impairment (n, %)^a	11/12 (91.7)	23/23 (100)	0.343
Cerebellar dysfunction (n, %)^a	2/12 (16.7)	11/23 (47.8)	0.139
Pyramidal signs (n, %)^a	2/12 (16.7)	6/23 (26.1)	0.685
Extrapyramidal signs (n, %)^a	1/12 (8.3)	5/23 (21.7)	0.640
Cerebrospinal fluid findings
Positivity rate of 14-3-3 protein (n, %)^a	11/12 (91.7)	19/23 (82.6)	0.640
Positivity rate of t-τ protein (n, %)^a	11/12 (91.7)	22/23 (95.7)	1.000
Positivity rate of PrP^Sc (n, %)^a	1/8 (12.5)	13/19 (68.4)	0.013
PSWC in EEG (n, %)^a	0/12 (0)	14/23 (60.9)	0.001
Codon 129 is presented as the total cases of the indicated polymorphism type where MM indicates methionine homozygous and MV indicates methionine and valine heterozygous.
In V180I, the field strength of the MRI was 1.5 T in 10 cases and 3 T in 2 cases, whereas in sCJD, it was 1.5 T in 15 cases and 3 T in 8 cases.

SD, standard deviation; MRI, magnetic resonance imaging; t-τ, total τ; PrP^Sc, scrapie-type prion protein; PSWC, periodic sharp wave complexes; EEG, electroencephalogram.

^aFisher’s exact probability test. ^bChi-squared test. ^cWelch’s test. ^dMann – Whitney U test.

Figure 1. Magnetic resonance imaging (MRI) of an 80-year-old male with V180I (a – d) and an 84-year-old male with sporadic Creutzfeldt – Jakob disease (sCJD) (e, f). Brain MRI revealed increased signal intensity in the cerebral cortices on diffusion-weighted imaging in patients with both V180I CJD (a, c) and sCJD (e). Increased signal intensity in the cerebral cortices was also observed on T2-weighted images, with swelling in one patient with V180I CJD (b, d) and no swelling in one patient with sCJD (f).

Table 2. Frequency of grey matter hyperintensities at the gyral and nuclear levels in patients with V180I and sporadic Creutzfeldt-Jakob disease (sCJD) (regions with p < 0.1).

	V180I, (%) n = 12	sCJD, (%) n = 23	p value	q value
Inferior frontal	8 (66.7)	7 (30.4)	0.040	0.176
Orbitofrontal	9 (75.0)	7 (30.4)	0.012	0.186
Mesial frontal	10 (83.3)	10 (43.5)	0.024	0.184
Precentral	5 (41.7)	2 (8.7)	0.033	0.171
Postcentral	7 (58.3)	4 (17.4)	0.022	0.230
Inferior temporal	10 (83.3)	11 (47.8)	0.070	0.270
Parahippocampal	12 (100)	9 (39.1)	<0.001	0.019
Lingual	0 (0)	8 (34.8)	0.032	0.196
Superolateral occipital	3 (25.0)	13 (56.5)	0.076	0.260

A false discovery rate was applied as a post-hoc analysis to correct for multiple comparisons. A q value of<0.05 (displayed in bold) was considered significant.