Table 1 Clinical and auxiliary features of gPrDs with FTD phenotype and grouped by codon 129 genotypes
Variables | Total (N = 49) | Codon 129 genotypes | P values | |
|---|---|---|---|---|
MM (N = 11) | MV/VV (N = 16) | |||
Baseline characteristics | ||||
 Female, % | 23/49 (46.9) | 5/11 (45.5) | 11/16 (68.8) | 0.226 |
 Age at onset, years, median (IQR) | 45.0 (39.5, 53.5) | 59.0 (43.0, 66.0) | 43.5 (39.3, 60.3) | 0.368 |
 Symptoms duration, years, median (range) | 5.0 (2.8, 7.0) | 4.5 (1.5, 7.0) | 5.0 (3.0,6.9) | 0.481 |
 Family history, % | 40/49 (81.6) | 5/11 (45.4) | 14/16 (87.5) | 0.033 |
 bvFTD, % | 37/49 (75.5) | 5/11 (45.5) | 12/16 (75.0) | 0.118 |
 PPA, % | 9/49 (18.4) | 6/11 (54.5) | 2/16 (12.5) | 0.225 |
 FTD-ALS | 2/49 (4.1) | 0 | 2/16 (12.5) | 0.499 |
Clinical features of FTD | ||||
 Disinhibition, % | 23/40 (57.5) | 7/10 (70.0) | 4/13 (30.8) | 0.062 |
 Apathy, % | 27/42 (64.3) | 6/10 (60.0) | 9/13 (69.2) | 0.685 |
 Loss of empathy, % | 8/40 (20.0) | 4/10 (40.0) | 2/13 (15.4) | 0.341 |
 Stereotyped/perseverative behavior, % | 16/40 (40.0) | 4/10 (40.0) | 4/13 (30.8) | 0.685 |
 Alterations in food preferences, % | 10/40 (25.0) | 2/10 (20.0) | 2/13 (15.4) | 1.000 |
 Executive deficits, % | 23/40 (57.5) | 5/10 (50.0) | 10/13 (76.9) | 0.378 |
 Speech disorders, % | 23/29 (79.3) | 9/11 (81.8) | 12/15 (80.0) | 1.000 |
Clinical features of prion diseases | ||||
 Cognitive dysfunction, % | 38/41 (92.7) | 10/10 (100) | 15/15 (100) | 1.000 |
 Parkinsonism, % | 28/44 (63.7) | 7/10 (70.0) | 8/15 (53.3) | 0.405 |
 Pyramidal signs, % | 9/23 (39.1) | 4/10 (40.0) | 5/11 (45.4) | 1.000 |
 Visual signs, % | 5/21 (23.8) | 1/10 (10.0) | 4/10 (40.0) | 0.303 |
 Mutism, % | 14/39 (35.9) | 5/10 (50.0) | 5/15 (33.3) | 0.405 |
 Seizure, % | 8/31 (25.8) | 1/10 (10.0) | 3/15 (20.0) | 0.626 |
 Cerebellar signs, % | 7/31 (22.6) | 2/10 (20.0) | 3/15 (20.0) | 1.000 |
 Myoclonus, % | 9/40 (22.5) | 4/10 (40.0) | 2/15 (12.3) | 0.175 |
Laboratory features | ||||
 PSWCs on EEG, % | 0/29 (0) | 0/10 (0) | 0/8 (0) | 1.000 |
 Positive CSF 14-3-3 protein, % | 3/10 (30.0) | 3/7 (42.9) | 0/2 (0) | 0.500 |
 Elevated CSF tau protein, % | 6/10 (60.0) | 4/7 (57.1) | 1/2 (50.0) | 1.000 |
 Positive RT-QuIC, % | 2/3 (66.7) | 1/2 (50.0) | 1/1 (100.0) | 1.000 |
 Frontotemporal atrophy, % | 26/29 (89.7) | 10/11 (90.9) | 10/11 (90.9) | 1.000 |
 Hyperintensity on MRI, % | 6/24 (25.0) | 3/10 (30.0) | 1/10 (10.0) | 0.582 |
 Frontotemporal hypoperfusion or hypometabolism, % | 10/11 (90.9) | 4/4 (100.0) | 6/6 (100.0) | 1.000 |
 Tau-positive pathology | 5/6 (83.3) | 1/1 (100.0) | 2/2 (100.0) | 1.000 |