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. Author manuscript; available in PMC: 2020 Feb 1.
Published in final edited form as: Nat Med. 2019 Jan 21;25(2):277–283. doi: 10.1038/s41591-018-0304-3

Fig. 1 |. CSF and serum NfL levels are highly correlated and divert between mutation carriers and non-carriers already in the presymptomatic phase.

Fig. 1 |

a, CSF NfL values of non-carriers (blue, n = 80) and mutation carriers (red, n = 107) as a function of EYO. Shown is −27.5 until +15 years before or after EYO, respectively. b, Serum NfL for non-carriers (n = 162) and mutation carriers (n = 243) as a function of EYO. For a and b, the shaded areas represent the 99% credible intervals around the model estimates. The curves and credible intervals are drawn from the actual distributions of model fits derived by the Hamiltonian Markov chain Monte Carlo analyses (see Methods). The first EYO where non-carriers and mutation carriers differed was determined to be the first point where the 99% credible intervals around the difference distribution between non-carriers and mutation carriers did not overlap 0 (−6.8 years before EYO for both CSF and serum, see Extended Data Fig. 1). Our analysis is influenced by the available number of participants. Thus, results do not represent absolute measures, but rather relative EYO points where we could detect effects given the limitations of sample size. c,d, Significant associations from LMEMs between CSF NfL and serum NfL in non-carriers (n = 80; B(s.e.m.) = 0.350(0.14), P = 0.014) and mutation carriers (n = 107; B(s.e.m.) = 0.612(0.05), P < 2.0 × 10−16) were found.