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Table 1 Participant characteristics and neuropsychological test results

From: Cognitive composites for genetic frontotemporal dementia: GENFI-Cog

  C9orf72 GRN MAPT Controls
Number of participants 69 41 28 275
Sex, f:m 30:39 20:21 14:14 160:115
Age 55 (12.0) 53.0 (11.4) 51.1 (12.6) 45.8 (12.7)
Education 13.7 (3.1) 14.0 (3.5) 14.3 (3.4) 14.6 (3.4)
MMSE 27.1 (3.2) 26.6 (7.0) 27.5 (3.0) 29.3 (2.1)
CDR® plus NACC FTLD sob 5.9 (5.5) 3.4 (4.8) 4.8 (5.0) 0.2 (0.6)
Language
Camel and Cactus Test − 1.81 (2.81) − 0.57 (1.36) − 2.10 (3.08)
Boston Naming Test − 1.77 (3.32) − 0.68 (1.62) − 2.63 (3.16)
Category fluency − 1.20 (1.05) − 0.54 (1.04) − 0.84 (1.14)
Attention and mental processing speed
Digit span forward − 0.39 (1.19) − 0.08 (1.26) 0.13 (1.23)
Trail Making Test – part A − 1.37 (2.17) − 0.69 (1.63) − 0.72 (1.54)
Digit symbol − 1.18 (1.30) − 0.62 (1.23) − 0.67 (1.31)
D-KEFS CWIT – colour naming − 2.85 (3.58) − 0.52 (1.85) − 1.30 (2.17)
D-KEFS CWIT – word naming − 1.86 (3.11) − 0.02 (1.46) − 0.54 (1.47)
Executive function
Digit span backward − 0.53 (1.23) − 0.49 (1.23) − 0.19 (0.98)
Trail Making Test – part B − 2.44 (2.95) − 1.81 (3.06) − 1.37 (2.58)
D-KEFS CWIT – ink naming − 3.46 (3.91) − 1.13 (2.21) − 1.16 (2.54)
Phonemic fluency − 1.18 (1.18) − 0.08 (1.33) − 0.64 (1.28)
Visuoconstruction
Benson figure copy − 0.90 (1.90) − 0.06 (1.16) − 0.46 (1.39)
Memory
Benson figure recall − 0.72 (1.57) − 0.75 (1.46) − 1.27 (1.91)
FCSRT free recall − 1.68 (1.36) − 0.72 (1.49) − 1.71 (1.80)
FCSRT total recall − 2.20 (3.56) − 1.42 (3.05) − 2.86 (3.62)
FCSRT delayed free recall − 1.59 (1.59) − 0.97 (1.58) − 1.72 (2.04)
FCSRT delayed total recall − 2.10 (3.81) − 1.13 (3.09) − 2.82 (4.02)
Social cognition
Facial Emotion Recognition Test − 1.67 (1.87) − 1.00 (1.47) − 1.04 (1.59)
  1. Values are mean Z-scores (raw score − mean score controls/standard deviation of controls) corrected for age, years of education, and sex, with standard deviation in parentheses unless otherwise specified. For the FCSRT and letter fluency, an additional correction was made for language as stimuli differed between languages
  2. Abbreviations: C9orf72 chromosome 9 open reading frame 72, GRN progranulin, MAPT microtubule-associated protein tau, MMSE Mini-Mental State Examination, CDR® plus NACC FTLD sob Clinical Dementia Rating scale plus National Alzheimer’s Coordinating Center Frontotemporal Lobar Degeneration sum of boxes, D-KEFS CWIT Delis-Kaplan Executive Function System Colour-Word Interference Test, FCSRT Free and Cued Selective Reminding Test