Novel histotypes of sporadic Creutzfeldt–Jakob disease linked to 129MV genotype

Table 1 Clinical features of sCJDMV histotypes

Histotype	N cases	Age at onset (years)	Disease duration (months)	Female	White	EEG with PSWC_s	MRI suggestive of CJD	Positive CSF 14–3-3	Positive CSF RT-QuIC	Total tau [pg/ml] × 1000
1C	21	69 ± 11^a	7 ± 7^a	62^b 13/21 ^c	80^b 16/20 ^c	71^b 12/17 ^c	68^b 13/19 ^c	92^b 11/12 ^c	100^b 1/1 ^c	9.7 ± 6.3^a (n = 10)
1V	1	64	31	100 1/1	0 0/1	0 0/1	100 1/1	100 1/1	na	2.4 (n = 1)
1C-2PL	3	74 ± 5	12 ± 7	0 0/3	100 2/2	50 1/2	33 1/3	100 1/1	na	13 ± 14 (n = 2)
1C-2K	4	71 ± 4	12 ± 2	0 0/4	100 3/3	25 1/4	50 2/4	100 1/1	na	7.3 (n = 1)
1C-2C	2	71 ± 1	7 ± 4	0 0/2	100 2/2	50 1/2	50 1/2	100 1/1	na	5.3 (n = 1)
All (MV1/MV1-2)	31	70 ± 9	9 ± 8	45 14/31	82 23/28	58 15/26	62 18/29	94 15/16	100 1/1	9.2 ± 6.8
2C	23	70 ± 9	27 ± 16	56 13/23	90 19/21	9 1/11	90 18/20	33 3/9	100 10/10	1.5 ± 0.8 (n = 14)
2C-PL	5	72 ± 7	14 ± 6	80 4/5	100 5/5	0 0/1	100 2/2	100 1/1	na	1.9 ± 1.4 (n = 2)
2C-K	14	69 ± 8	14 ± 8	36 5/14	100 14/14	11 1/9	36 4/11	50 1/2	na	2.4 ± 1 (n = 2)
2K	11	67 ± 8	14 ± 7	27 3/11	100 11/11	0 0/10	90 9/10	86 6/7	na	na
All (MV2-1)	53	69 ± 8	20 ± 13	47 25/53	96 49/51	6 2/31	77 33/43	58 11/19	100 10/10	1.6 ± 0.9
P values^d		NS^e	< 0.0001^e	NS^f	NS^f	< 0.0002^g	NS^f	< 0.02^f		< 0.0008^e

EEG Electroencephalogram; PSWC Periodic short-wave complexes; MRI Magnetic resonance imaging; CSF Cerebrospinal fluid
MRI: 2C vs. 2C-K, P < 0.004 (Fisher’s exact test)
^aExpressed as mean ± SD and ^bpercentage. ^cCases with the feature listed/total cases examined; ^dIt compares MV1/MV1-2 and MV2-1 cases; ^eStudent’s t-test; ^fChi-square test; ^gFisher’s exact test

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