TABLE 3.
Cardiovascular and sudomotor autonomic testing
| Cardiovascular parameters a | GBA‐PD (N = 21) | PD noncarriers (N = 24) | P‐value b | GBA‐SM (N = 11) | GBA‐MM (N = 10) | P‐value c | P‐value d | P‐value e |
|---|---|---|---|---|---|---|---|---|
| Basal cardiovascular parameters | ||||||||
| Basal RR interval variation | 14.3 ± 6.8 | 15.7 ± 9.3 | 0.59 | 12.7 ± 4.6 | 16 ± 8.5 | 0.22 | 0.76 | 0.26 |
| Basal LF/HF supine | 0.9 ± 0.6 | 0.9 ± 0.7 | 0.97 | 1.0 ± 0.8 | 0.8 ± 0.3 | 0.85 | 0.90 | 0.72 |
| Cardiac parasympathetic parameters | ||||||||
| E:I ratio | 1.3 ± 0.2 | 1.3 ± 0.2 | 0.52 | 1.2 ± 0.2 | 1.3 ± 0.2 | 0.21 | 0.97 | 0.49 |
| %∆E‐I (DB vs. basal) (%) | 68.9 ± 90.8 | 80 ± 102 | 0.71 | 69.3 ± 61.8 | 68.5 ± 118.7 | 0.76 | 0.74 | 0.96 |
| DB RR interval variation | 28.7 ± 18.9 | 31.4 ± 18.9 | 0.67 | 30.1 ± 20.4 | 27.3 ± 18 | 0.69 | 0.70 | 0.96 |
| Valsalva ratio (VR) | 1.4 ± 0.2 | 1.6 ± 0.4 | 0.058 | 1.5 ± 0.3 | 1.3 ± 0.1 | 0.44 | 0.024 | 0.12 |
| Cardiovascular sympathetic parameters | ||||||||
| Valsalva maneuver | ||||||||
| SI 1 (Fall during phase 2) | −18.2 ± 14.5 | −11.5 ± 13.1 | 0.13 | −20.2 ± 15.8 | −16.0 ± 13.5 | 0.12 | 0.40 | 0.97 |
| SI 2 BP recovery late Phase II | 10 ± 13.9 | −6.8 ± 15.3 | 0.04 | 9.7 ± 24.9 | 4.7 ± 14.3 | 0.028 | 0.062 | 0.61 |
| Novak Index (SI3) | −14.0 ± 15.5 | −18.9 ± 15.8 | 0.32 | −15.5 ± 13.2 | −12.3 ± 18.4 | 0.56 | 0.32 | 0.67 |
| Magnitude of phase 4 (SI4) | 9.2 ± 10.5 | 12.5 ± 11.7 | 0.42 | 11.3 ± 11.4 | 7.0 ± 9.5 | 0.74 | 0.34 | 0.59 |
| Pressure recovery time (SI5) | 15.5 ± 12.6 | 13.6 ± 12.6 | 0.63 | 17.9 ± 16.5 | 12.9 ± 6.2 | 0.43 | 0.88 | 0.41 |
| BRSa (SI6) | −1.1 ± 2.0 | −2.2 ± 2.6 | 0.15 | −1.2 ± 1.3 | −1.0 ± 2.7 | 0.26 | 0.26 | 0.83 |
| Head‐Up Tilt Test (HUTT) | ||||||||
| ∆sBP (1 min), mmHg | 4.4 ± 11.2 | 15.7 ± 17.9 | 0.016 | 5.0 ± 9.9 | 3.7 ± 13.0 | 0.093 | 0.059 | 0.81 |
| ∆dBP (1 min), mmHg | 15.2 ± 7.2 | 19.0 ± 10.7 | 0.16 | 14.5 ± 8.1 | 16.1 ± 6.3 | 0.27 | 0.34 | 0.86 |
| ∆HR (1 min), bpm | 11.8 ± 7.3 | 11.6 ± 7.8 | 0.90 | 13.5 ± 7.9 | 9.8 ± 6.4 | 0.59 | 0.69 | 0.33 |
| ∆sBP (3 min), mmHg | 3.4 ± 12.4 | 6.0 ± 8.7 | 0.39 | 7.3 ± 10.3 | −1.1 ± 13.5 | 0.72 | 0.074 | 0.13 |
| ∆dBP (3 min), mmHg | 8.4 ± 9.7 | 8.6 ± 8 | 0.94 | 10.8 ± 9.1 | 5.7 ± 10.1 | 0.48 | 0.39 | 0.17 |
| ∆HR (3 min), bpm | 13.1 ± 7.1 | 12.0 ± 8.2 | 0.62 | 15.6 ± 8.3 | 10.3 ± 4.2 | 0.23 | 0.55 | 0.084 |
| ∆HR/∆sBP index | −0.5 ± 3.9 | 1.5 ± 4.8 | 0.15 | −1.6 ± 4.5 | 0.8 ± 2.8 | 0.087 | 0.69 | 0.16 |
| ∆sBP (5 min), mmHg | −3.5 ± 11.2 | 3.5 ± 8.7 | 0.027 | −2.9 ± 10.5 | −4.1 ± 12.4 | 0.085 | 0.078 | 0.89 |
| ∆dBP (5 min), mmHg | 1.3 ± 8.2 | 5.7 ± 8.4 | 0.092 | 1.3 ± 9.7 | 1.3 ± 6.9 | 0.16 | 0.23 | 0.96 |
| ∆HR (5 min), bpm | 11.8 ± 7.5 | 11.4 ± 8.8 | 0.87 | 14.0 ± 8.0 | 9.6 ± 6.6 | 0.51 | 0.69 | 0.26 |
| ∆sBP (7 min), mmHg | −0.3 ± 7.7 | 1.3 ± 10.0 | 0.56 | −0.9 ± 7.1 | 0.3 ± 8.5 | 0.60 | 0.95 | 0.62 |
| ∆dBP (7 min), mmHg | 2.5 ± 7.2 | 3.4 ± 9.1 | 0.71 | 0.6 ± 7.6 | 4.3 ± 6.6 | 0.41 | 0.53 | 0.47 |
| ∆HR (7 min), bpm | 13.2 ± 10.5 | 11.1 ± 9.6 | 0.50 | 13.4 ± 9.7 | 12.9 ± 11.7 | 0.54 | 0.49 | 0.95 |
| ∆sBP (10 min), mmHg | −3.9 ± 8.4 | 0.7 ± 10.4 | 0.13 | −2.7 ± 6.9 | −5.1 ± 9.9 | 0.38 | 0.18 | 0.44 |
| ∆dBP (10 min), mmHg | −0.5 ± 6.1 | 1.4 ± 11.3 | 0.53 | −0.8 ± 5.7 | −0.1 ± 6.7 | 0.45 | 0.95 | 0.65 |
| ∆HR (10 min), bpm | 12.2 ± 9.4 | 11.1 ± 9.5 | 0.72 | 12.2 ± 11.1 | 12.1 ± 7.9 | 0.74 | 0.77 | 0.94 |
| ∆sBP (1 min post Tilt‐down), mmHg | −0.6 ± 16.3 | −8.7 ± 18.2 | 0.14 | −2.1 ± 12.2 | 1 ± 20.5 | 0.28 | 0.23 | 0.94 |
| ∆dBP (1 min post Tilt‐down), mmHg | −10.6 ± 12.1 | −17.7 ± 12.1 | 0.060 | −10.8 ± 11.9 | −10.4 ± 13 | 0.15 | 0.11 | 0.84 |
| ∆HR (1 min post Tilt‐down), bpm | −0.2 ± 8.7 | −1.0 ± 5.6 | 0.73 | −2.9 ± 6.5 | 2.7 ± 10.2 | 0.41 | 0.15 | 0.11 |
| Muscular sympathetic parameters | ||||||||
| Handgrip test | ||||||||
| ∆dBP (3 min), mmHg | 4.6 ± 10.3 | 6.4 ± 10.7 | 0.59 | 3.2 ± 6.9 | 6.0 ± 13.1 | 0.37 | 0.96 | 0.62 |
| %∆dBP (3 min vs. basal) (%) | 6.6 ± 14 | 8.9 ± 14.2 | 0.61 | 3.4 ± 7.9 | 9.7 ± 18.2 | 0.25 | 0.76 | 0.34 |
| Heart rate variability | ||||||||
| Frequency‐domain analysis | ||||||||
| Basal LF/HF supine | 0.9 ± 0.6 | 0.9 ± 0.7 | 0.97 | 1.0 ± 0.8 | 0.8 ± 0.3 | 0.85 | 0.90 | 0.72 |
| LF/HF (DB) | 3.0 ± 3.3 | 3.3 ± 2.5 | 0.77 | 4.2 ± 4.2 | 1.6 ± 0.7 | 0.44 | 0.070 | 0.72 |
| ∆% (LF/HF‐DB vs. LF/HF basal) | 265.9 ± 252 | 349.9 ± 364.5 | 0.39 | 388.6 ± 276.4 | 131 ± 132.8 | 0.78 | 0.093 | 0.008 |
| LF/HF (Tilt 1 min) | 1.1 ± 0.8 | 1.2 ± 1.0 | 0.41 | 1.3 ± 1.0 | 0.9 ± 0.4 | 0.93 | 0.26 | 0.28 |
| LF/HF (Tilt 3 min) | 2.5 ± 5 | 2.4 ± 2.7 | 0.91 | 3.9 ± 6.7 | 1.0 ± 0.4 | 0.33 | 0.13 | 0.15 |
| LF/HF (Tilt 5 min) | 1.4 ± 1.2 | 2.2 ± 1.8 | 0.065 | 1.7 ± 1.6 | 1.1 ± 0.5 | 0.25 | 0.078 | 0.50 |
| LF/HF (Tilt 7 min) | 1.5 ± 1.9 | 2.6 ± 1.9 | 0.047 | 1.9 ± 2.6 | 1.0 ± 0.6 | 0.29 | 0.014 | 0.58 |
| LF/HF (Tilt 10 min) | 3.5 ± 9.6 | 4.3 ± 7.3 | 0.79 | 5.7 ± 13.5 | 1.4 ± 1.3 | 0.75 | 0.22 | 0.53 |
| LF/HF (1 min post‐Tilt down) | 1.2 ± 1.4 | 1.0 ± 0.9 | 0.67 | 1.4 ± 1.8 | 1.0 ± 0.8 | 0.53 | 0.90 | 0.60 |
| Time‐domain analysis | ||||||||
| SDNN (ms) | 72.2 ± 6.6 | 128.0 ± 23.1 | <0.001 | 68.8 ± 7.2 | 75.9 ± 3.0 | <0.001 | <0.001 | 0.009 |
| SDANN (ms) | 33.3 ± 7.0 | 108.0 ± 16.8 | <0.001 | 31.2 ± 6.2 | 35.6 ± 7.3 | <0.001 | <0.001 | 0.15 |
| SDNN index (ms) | 22.3 ± 4.0 | 37.1 ± 5.1 | <0.001 | 20.8 ± 3.8 | 24.0 ± 3.6 | <0.001 | <0.001 | 0.068 |
| r‐MSSD (ms) | 10.7 ± 2.7 | 16.1 ± 2.3 | <0.001 | 9.3 ± 2.5 | 12.2 ± 2.0 | <0.001 | <0.001 | 0.008 |
| pNN50 (%) | 0.7 ± 0.3 | 1.4 ± 0.2 | <0.001 | 0.6 ± 0.3 | 0.7 ± 0.3 | <0.001 | <0.001 | 0.53 |
| Sudomotor autonomic parameters | ||||||||
| Dynamic sweat test (DST) | ||||||||
| Sweat/Cm2/min | ||||||||
| More affected body side (by sweating) | 4.5 [1.7–6.4] | 7.6 [4.4–14.9] | 0.048 | 3.1 [1.7–5.4] | 6.1 [4.1–7.0] | 0.059 | 0.19 | 0.32 |
| Less affected body side (by sweating) | 10.0 [6.6–18.0] | 13.1 [7.5–34.7] | 0.23 | 7.9 [4.8–30.1] | 15.1 [9.6–17.7] | 0.19 | 0.53 | 0.45 |
Note: See text and supplementary material for further details.
Abbreviations: BRSa, Baroreflex Sensitivity Index‐adrenergic; D, delta; DB, Deep Breathing; DLB, Dementia with Lewy Bodies; dBP, Dyastolic blood pressure; E:I, Expiration:Inspiration; GBA, glucocerebrosidase; HR, Heart Rate; LF/HF, Low Frequency/High Frequency; MM, mild mutations; PD, Parkinson's Disease; PKS, parkinsonism; pNN50, Percentage of successive RR intervals that differ by more than 50 ms; sBP, Systolic blood pressure; SDNN, Standard deviation of NN intervals; SDANN, Standard deviation of the average NN intervals; SI, Sympathetic Index; SM, severe mutations; r‐MSSD, Root mean square of successive RR interval differences; VR, Valsalva Ratio.
a
All parameters are reported as mean ± SD, unless otherwise specified. All P‐values are calculated according to linear (continuous variables) or logistic (dichotomous variables) regression models adjusted for disease duration. Significant values (P < 0.05) are shown in bold.
b
PD noncarriers versus GBA‐PD.
c
GBA‐SM versus PD Noncarriers.
d
GBA‐MM versus PD Noncarriers.
e
GBA‐SM versus GBA‐MM.