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Table 1 Clinical and auxiliary features of gPrDs with FTD phenotype and grouped by codon 129 genotypes

From: Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge

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
  1. CJD, Creutzfeldt-Jakob disease; FTD, frontotemporal dementia; IQR, interquartile range; PRNP, prion protein gene; PSWCs, periodic sharp wave complexes; RT-QuIC, real-time quaking-induced conversion assay