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Table 1 Demographic and autopsy features by proteinopathy groups and subtypes in our autopsy cohort

From: Frontotemporal lobar degeneration proteinopathies have disparate microscopic patterns of white and grey matter pathology

  FTLD-Tau CBD MAPT PiD PSP FTLD-TDP Type A Type B Type C Type E sig. groupa sig. subtypeb
N 37 11 5 12 9 55 20 17 13 5   
Female (%) 16/37 (43.2) 7/11 (63.6) 4/5 (80.0) 4/12 (33.3) 1/9 (11.1) 27/55 (49.1) 11/20 (55.0) 8/17 (47.1) 4/13 (30.8) 4/5 (80.0) 0.672 0.072
Phenotype (%)
 bvFTD 23/37 (62.2) 4/11 (36.4) 5/5 (100) 10/12 (83.3) 4/9 (44.4) 42/55 (76.4) 14/20 (70.0) 16/17 (94.1) 7/13 (53.8) 5/5 (100.0) 0.166 0.004
 PPA 14/37 (37.8) 7/11 (63.6) 0/5 (0) 2/12 (16.7) 5/9 (55.6) 13/55 (23.6) 6/20 (30.0) 1/17 (5.9) 6/13 (46.2) 0/5 (0)   
 naPPA 10/14 (71.4) 5/7 (71.4) 0/2 (0) 5/5 (100.0) 3/13 (23.1) 2/6 (33.3) 1/1 (100.0) 0/6 (0) 0.007  < 0.001
 svPPA 1/14 (7.1) 0/7 (0) 1/2 (50.0) 0/5 (0) 8/13 (61.5) 2/6 (33.3) 0/1 (0) 0/6 (0)   
 mPPA 3/14 (21.4) 2/7 (28.6) 1/2 (50.0) 0/5 (0) 2/13 (15.4) 2/6 (33.3) 0/1 (0) 6/6 (100.0)   
Genetic cases (%) 5/37 (13.5) 0/11 (0) 5/5 (100) 0/11 (0) 0/9 (0) 28/55 (50.9) 14/20 (70.0)c 12/17 (70.6) 2/13 (15.4) 0/5 (0.0)  < 0.001  
 MAPT 5/37 (13.5)d 0/11 (0) 5/5 (100) 0/11 (0) 0/9 (0)        
 C9orf72       15/55 (27.3) 3/20 (15.0) 11/17 (64.7) 1/13 (7.7) 0/5 (0.0)    < 0.001g
 GRN       11/55 (20.0)e 10/20 (50.0) 1/17 (5.9) 0/13 (0.0) 0/5 (0.0)   
 TBK1       2/55 (3.6)f 1/20 (5.0) 0/17 (0.0) 1/13 (7.7) 0/5 (0.0)   
Age at onset 60.0 ± 12.3 58.1 ± 9.4# 47.0 ± 14.9# 56.8 ± 6.8# 73.6 ± 7.7 59.0 ± 7.7 60.4 ± 6.4# 57.7 ± 8.8# 59.2 ± 8.5# 57.6 ± 8.4# 0.691  < 0.001
Age at death 67.6 ± 12.5 64.4 ± 10.6# 53.8 ± 16.0# 67.3 ± 8.3 79.6 ± 7 66.0 ± 8.8 67.5 ± 7.1# 63.7 ± 9.2# 68.9 ± 9.9 60.0 ± 9.1# 0.496  < 0.001
Disease duration 7.6 ± 3.7 6.3 ± 2.9 6.8 ± 2.3 10.5 ± 4.2^& 6.0 ± 2.5 6.9 ± 4.3 7.1 ± 3.6 6.0 ± 4.8 9.6 ± 3.7& 2.4 ± 0.9 0.394  < 0.001
PMI 12.0 ± 6.4 13.9 ± 7.4 9.4 ± 3.1 12.6 ± 6.4 10.6 ± 6.5 12.6 ± 6.6 10.6 ± 5.9 14.4 ± 7.7 13.8 ± 6.0 11.6 ± 6.8 0.689 0.550
Brain weight 1091.9 ± 146.7 1096.0 ± 140.7 1082.0 ± 192.7 1021.5 ± 126.5 1179.0 ± 123.3 1097.7 ± 190.3 985.9 ± 165.1& 1145.0 ± 207.3 1126.0 ± 134.1 1289.0 ± 119.7 0.872 0.004
  1. bvFTD = behavioral variant of frontotemporal dementia; CBD = corticobasal degeneration; FTLD-Tau = frontotemporal lobar degeneration with inclusions of the protein tau; FTLD-TDP = frontotemporal lobar degeneration with inclusions of the TDP-43 protein; MAPT = FTLD-tau with MAPT gene mutation; mPPA = mixed variant of primary progressive aphasia; naPPA = nonfluent variant of primary progressive aphasia; PiD = Pick’s disease; PMI = post-mortem interval; PPA = primary progressive aphasia; PSP = progressive supranuclear palsy; svPPA = semantic variant of primary progressive aphasia; Type A/Type B/Type C/Type E = subtypes of FTLD-TDP
  2. aStatistical significance (p value) when comparing the two main FTLD proteinopathies (i.e. FTLD-Tau and FTLD-TDP)
  3. bStatistical significance (p value) when comparing all proteinopathy subtypes (i.e. FTLD-Tau: CBD, MAPT, PiD, PSP; FTLD-TDP: type A, type B, type C, type E)
  4. cOne patient with FTLD-TDP type A had two VUS in the GRN gene (GRN c.956 T > A, p.Ile319Lys; c.1058G > A, p.Ser353Asn), which were not considered to be pathogenic; therefore, this patient was classified as a sporadic case. Another patient with FTLD-TDP type A had a mutation in the GBE gene (GBE1 c.1280delG, p.G427fs*9), whose association with FTLD-TDP is unclear; for this reason, this patient was also classified as a sporadic case
  5. dMAPT point mutations were: c.1165G > A, p.G389R (n = 1); c.796C > G, p.L266V (n = 1); c.902C > T, p.P301L (n = 1); c.915 + 16C > T, intronic variant (n = 2)
  6. eGRN point mutations were: c.1009C > T, p.Q337* (n = 1 type A); c.102delC, p.G35Efs*19 (n = 1 type A); c.1179 + 2 T > C, p.? (n = 1 type B); c.1252C > T, p.R418* (n = 1 type A); c.1414-2A > G, p.A472Vfs*10 (n = 1 type A); c.1477C > T, p.R493* (n = 1 type A); c.26C > A, p.A9D (n = 1 type A); c.295_308delTGCCCACGGGGCTT, p.C99Pfs*15 (n = 1 type A); c.348A > C, p.S116 = (n = 1 type A); c.675_676delCA, p.S226Wfs*28 (n = 1 type A); c.911G > A, p.W304* (n = 1 type A)
  7. fTBK1 point mutations were: c.1387_1388delGA, p.E463Sfs*13 (n = 1 type C); TBK1 c.922C > T, p.R308* (n = 1 type A)
  8. gThe frequency of FTLD-TDP-related genetic mutations (i.e. C9orf72, GRN, TBK1) was compared between proteinopathy subtypes of FTLD-TDP only (i.e. type A, type B, type C, type E). The frequency of FTLD-Tau-related genetic mutations (i.e. MAPT) could not be statistically tested between subtypes because all cases with mutation were grouped as a separate MAPT proteinopathy subtype
  9. #< 0.05 compared to PSP (post-hoc comparisons, Bonferroni-corrected); ^< 0.05 compared to TDP type B (post-hoc comparisons, Bonferroni-corrected); &< 0.01 compared to TDP type E (post-hoc comparisons, Bonferroni-corrected)