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Table 1 Demographic and clinical data

From: A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study

   Total Affected mutation carriers Presymptomatic mutation carriers Non-carriers p-value
Number of individuals 221 47 98 76
Sex distribution [F/M] 119/102 20/27 58/40 41/35 0.17a
Age [mean ± SD (range)] 50 ± 14 (20–76) 62 ± 9 (38–76) 46 ± 12 (20–74) 47 ± 13 (20–69) 3e-14b
Age at onset [mean ± SD (range)]   58 ± 9 (35–73)   
Mutation [N (%)] C9orf72   27 (57) 41 (42)   
GRN   12 (26) 38 (39)   
MAPT   7 (15) 16 (16)   
TBK1   1 (2) 3 (3)   
Clinical phenotype [N (%)] bvFTD   32 (68)    
PPA   7 (15)    
Otherc   8 (17)    
  1. Age measured in years
  2. AMC affected mutation carriers, PMC presymptomatic mutation carriers, NC non-carriers, C9orf72 chromosome 9 open reading frame 72, GRN progranulin, MAPT microtubule associated protein tau, TBK1 TANK-binding kinase 1, bvFTD behavioural variant frontotemporal dementia, PPA primary progressive aphasia, FTD-ALS frontotemporal dementia with amyotrophic lateral sclerosis, PSP progressive supranuclear palsy, D-NOS dementia not otherwise specified
  3. aFisher’s exact test
  4. bANOVA. Tukey’s Honestly Significant Difference (Tukey’s HSD) post-hoc test was performed for pairwise comparisons (AMC vs NC, p = 3e-11; AMC vs PMC, p = 2e-13; PMC vs NC, p = 0.8)
  5. cOther clinical phenotypes included ALS (n = 4), FTD-ALS (n = 1), PSP (n = 2), D-NOS (n = 1)