Table 3

Evolution of clinical markers over 6 years and comparison between groups

HCHet GBA GDP (between*)
P1P2P3
UPSITBaseline35.15 (±0.50)31.00 (±1.38)32.39 (±0.91)
Follow-up31.54 (±1.17)30.29 (±1.25)31.00 (±1.37)
N131423
P (within†)0.013‡0.3580.312<0.001‡<0.001‡0.700
UMSARS reducedBaseline00.25 (±0.14)0.39 (±0.14)
Follow-up1.21(±0.37)2.13 (±0.44)1.90 (±0.34)
N141631
P (within†)0.004‡0.001‡<0.001‡0.0190.0660.568
RBDsqBaseline0.42 (±0.22)0.20 (±0.2)0.55 (±0.32)
Follow-up1.50 (±0.63)3.00 (±0.74)2.77 (±0.68)
N121522
P (within†)0.117<0.001‡<0.001‡0.1830.9350.152
MoCABaseline26.56 (±0.50)25.81 (±0.7)26.40 (±0.40)
Follow-up28.06 (±0.42)27.19 (±0.46)26.83 (±0.52)
N161630
P (within†)0.019‡0.0680.1410.006‡0.0860.316
MDS-UPDRS IIIBaseline0.44 (±0.27)0.94 (±0.46)2.81 (±1.08)
Follow-up2.06 (±0.77)3.31 (±1.05)7.52 (±2.40)
N161631
P (within†)0.0480.010‡<0.001‡0.001‡0.001‡0.209
BDIBaseline0.000.002.12 (±1.28)
Follow-up3.00 (±1.48)5.67 (±1.19)10.00 (±2.16)
N7926
P (within†)0.031‡0.007‡0.001‡0.1980.9930.149
  • Data are reported as means (±SE).

  • *Linear mixed-effects model comparing the scores of the three groups over time. A false discovery rate of 5% was set using the Benjamini-Hochberg procedure. P1=GD vs HC, P2=Het GBA vs HC, P3=GD vs Het GBA.

  • †Wilcoxon matched-pairs signed-rank test comparing baseline and 6-year follow-up scores within each group separately. A false discovery rate of 5% was set using the Benjamini-Hochberg procedure.

  • ‡Significant result.

  • BDI, Beck Depression Inventory; GD, patients with Gaucher disease; HC, healthy controls; Het GBA, heterozygous GBA1 mutation carriers; MDS-UPDRS III, Movement Disorders Society Unified Parkinson’s Disease Rating Scale motor subscale; MoCA, Montreal Cognitive Assessment; RBDsq, REM Sleep Behavior Disorder screening questionnaire; UMSARS, Unified Multiple System Atrophy Rating Scale; UPSIT, University of Pennsylvania Smell Identification Test.