TABLE 2.
Demographic and Clinical Characteristics of Patients with Parkinson’s Disease with Pathogenic PRKN Variants (PRKN-PD) and of Patients without Pathogenic Variants (PD-NM)
| PD-NM and PRKN-PD Unadjusted Comparisons | PD-NM and PRKN-PD Adjusted Comparisons | |||||
|---|---|---|---|---|---|---|
| Characteristics | PD-NM n=1181 | PRKN-PD n=228 | p Valueb | Coefficient or odds ratio (OR) (SE) | Cohen’s f2 | p Valueb |
| Baseline | ||||||
| Sex (% male) | 727/1,181 (61.6%) | 118/228 (51.8%) | 0.016c | |||
| Mean age at examination (SD), y | 50.5 (13.2) | 45.4 (12.9) | <0.0001c | |||
| Mean disease duration (SD), y | 8.8 (7.8) | 14.1 (10.4) | <0.0001c | |||
| Mean age at onset (SD), y | 41.6 (12.0) | 31.2 (10.7) | <0.0001c | |||
| L-DOPA-treated | 791/1,181 (67%) | 148/228 (64.9%) | 0.69 | |||
| Levodopa responsivenessa | 659/738 (89.3%) | 142/149 (95.3%) | 0.045c | 1.9 (0.82) | 0.007 | 0.15 |
| Motor symptoms and signs | ||||||
| Dystonia at onset | 164/990 (16.6%) | 37/201 (18.4%) | 0.69 | 0.84 (0.18) | 0.001 | 0.46 |
| Akinesia at onset | 590/946 (61.3%) | 99/206 (48.1%) | 0.0010c | 0.51 (0.09) | 0.015 | 0.0003c |
| Tremor at onset | 570/960 (59.4%) | 142/205 (69.3%) | 0.021c | 1.7 (0.29) | 0.007 | 0.0076c |
| Micrographia | 308/927 (33.2%) | 42/204 (20.6%) | 0.0013c | 0.58 (0.11) | 0.007 | 0.010c |
| Asymmetry | 1,001/1,035 (96.7%) | 181/198 (91.4%) | 0.0049c | 0.26 (0.09) | 0.010 | 0.0005c |
| Bradykinesia | 1,033/1,069 (96.6%) | 201/208 (96.6%) | 1.0000 | 1.4 (0.63) | 0.002 | 0.46 |
| Rigidity | 1,008/1,066 (94.6%) | 194/204 (95.1%) | 0.90 | 1.1 (0.42) | <0.001 | 0.77 |
| Tremor | 796/1,056 (75.4%) | 168/205 (82%) | 0.057 | 1.5 (0.32) | 0.002 | 0.072 |
| Mean UPDRS III “ON” state (/108) (SD) | 19.6 (13.8) | 15.9 (11.9) | 0.0049c | −3.3 (1.2) | 0.008 | 0.014c |
| Mean Hoehn & Yahr “ON” state (/5) (SD) | 2 (0.91) | 2.00 (0.93) | 0.74 | −0.14 (0.09) | 0.003 | 0.16 |
| Dyskinesia | 457/667 (68.5%) | 97/178 (54.5%) | 0.0025c | 0.44 (0.09) | 0.020 | 0.0005c |
| Motor fluctuations | 485/663 (73.2%) | 82/177 (46.3%) | <0.0001c | 0.32 (0.07) | 0.041 | <0.0001c |
| Non-motor symptoms and signs | ||||||
| Dysautonomia | 254/470 (54.0%) | 36/192 (18.8%) | <0.0001c | 0.19 (0.05) | 0.095 | <0.0001c |
| Dementia | 67/667 (10.0%) | 6/153 (3.9%) | 0.037c | 0.34 (0.16) | 0.009 | 0.014c |
Data are expressed as mean (standard deviation) for continuous variables, and as counts (percentages) for categorical variables. We used t-tests to compare the two groups for continuous variables and Fisher’s exact tests for binary variables. Coefficients for continuous clinical features and odds ratios (ORs) for binary clinical features and standard error (SE), Cohen’s f2 and p-values were calculated from GLMs with mutation status, sex, age at onset, disease duration, L-DOPA group and age at onset vs disease duration for all 15 variables except for onset variables for which only mutation status, sex and age-at-onset were added. Linear models were used for continuous variables; GLMs with logit links and Bernouilli distributions were used for binary variables; UPDRS III, the motor subsection of the Unified Parkinson’s Disease Rating Scale.
Levodopa responsiveness was defined as a >30% improvement in subjective perceived motor symptoms.
p corrected for multiple testing by the Benjamini-Hochberg procedure.
p < 0.05.