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

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

Haplotypes (129 cis) Trans codon n Type 1 PrPSc Type 2 PrPSc Type 1 & 2 PrPSc All PrPScTypes
% 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) (2–17) (37–66)
All   11 0 - 91% 9 ± 4 8% 10 9 ± 4 a 55 ± 11
      (10) (2–17) (n = 1) (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
   (n = 58) (1–12) (n = 5) (6.5-29) (n = 10) (2–11) (1–29) (40–85)
  1. 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), PrPSc 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.