Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

Table 5 Comparison of disease duration and age at disease onset, and PrP ^Sc types between different E200K haplotypes

Haplotypes (129 cis)	Trans codon	n	Type 1 PrP^Sc		Type 2 PrP^Sc		Type 1 & 2 PrP^Sc		All PrP^ScTypes
	Trans codon		%	Disease duration	%	Disease duration	% types	Disease duration	Disease duration	Age at onset
	129		type 1	(mean ± SD; range)	type 2	(months, mean ± SD; range)	1 and 2	(months, mean ± SD; range)	(months, mean ± SD; range)	(years mean ± SD; range)
E200K-129V
	M	7	0	-	86%	8 ± 1	14%	10	8 ± 1	56 ± 12
					(n = 6)	(7–9)	(n = 1)		(7–10)	(37–67)
	V	4	0	-	100%	10 ± 6	0	-	10 ± 6	54 ± 12
					(n = 4)	(2–17)	0	-	(2–17)	(37–66)
All		11	0	-	91%	9 ± 4	8%	10	9 ± 4 ^a	55 ± 11
					(10)	(2–17)	(n = 1)	10	(2–17)	(37–67)
E200K-129M
	M	54	91%	4 ± 2	0	-	9%	4 ± 2	4 ± 2 ^b	59 ± 11
			(n = 49)	(1–12)			(n = 5)	(2–7)	(1–12)	(40–85)
	V	19	47%	5.5 ± 3 ^c	26.5%	16.5 ± 8 ^c	26.5%	7 ± 4	9 ± 7 ^b	63 ± 7
			(n = 9)	(3–10)	(n = 5)	(6.5-29)	(n = 5)	(2–11)	(2–29)	(53–76)
All		73	79%	4 ± 2	7%	16.5 ± 8	14%	5 ± 3	5 ± 4.5 ^a	60 ± 10
All			(n = 58)	(1–12)	(n = 5)	(6.5-29)	(n = 10)	(2–11)	(1–29)	(40–85)

Abbreviations and Definitions: n Number of cases, Bold denotes subgroups with significant differences. ^a E200K-129V had longer duration than E200K-129M (p = 0.029); ^b E200K-129M(V) lived longer than E200K-129MM (p = 0.004); ^c Among E200K-129M(V), PrP^Sc type 2 lived significantly longer than type 1 (p = 0.036). All other groups did not differ significantly from each other in disease duration or age at onset.

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