Figure 5.

Modelisation of pNfL trajectories and progression rates over the entire disease course, from presymptomatic phase to clinical phase, in GRN and C9orf72 carriers. (A, B) pNfL levels at baseline and at follow-up visits in presymptomatic and symptomatic carriers of GRN (A) and C9orf72 (B) mutations, at individual and group levels, according to their clinical status and their (estimated) distance to/from disease onset. (C) pNfL annualised rates of change (%) in presymptomatic and symptomatic GRN and C9orf72 carriers according to their (estimated) distance to/from disease onset. Patients are classified according to their phenotype. Among C9orf72 patients, those with SP disease course are presented in a different colour. On the x axis, the disease duration from onset is given for patients, and the estimated years to clinical onset is given for presymptomatic carriers. Estimated years to onset were calculated for each individual, taking into account the mean age of disease onset in his/her family. For prodromal C9orf72 carriers, the age at their first subtle cognitive/behavioural and/or motor symptoms was considered. ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia; NfL, neurofilament light chain; pNfL, plasma neurofilament light chain; PSY, psychiatric presentations; SP, slowly progressive.