TABLE 4.

Comparison of clinical phenotypes between P/LP variant carriers and non-carriers, and between with non- pathogenic variant carriers and non-carriers.

Clinical features	Non-carriers	P/LP variant carriers	P	Non-pathogenic variant carriers	P
	(n = 122)	(n = 14)		(n = 19)
Age at onset (year)*	44.48 ± 5.76	36.07 ± 11.13	0.033	41.74 ± 8.35	0.144
Male (case,%)	71(58.2%)	11(78.6%)	0.271	9 (47.4%)	0.372
Age at assessment (year)*	51.61 ± 8.18	44.06 ± 13.29	0.158	50.19 ± 10.85	0.825
Disease duration (year)*	5.0 (1–50)	5.0 (2–31)	0.922	8.0 (2–23)	0.106
LED (mg/d)	515.0 ± 279.8	403.7 ± 268.9	0.409	720.1 ± 304.9	0.013
UPDRS-I score	3.48 ± 2.59	4.11 ± 2.21	0.401	4.07 ± 2.34	0.321
ADL score*	12.92 ± 7.22	12.89 ± 9.74	0.724	10.69 ± 7.39	0.219
UPDRS-III score	29.30 ± 16.17	28.00 ± 25.39	0.258	25.91 ± 13.66	0.423
H-Y*	2.10 ± 0.87	2.04 ± 1.12	0.539	2.09 ± 0.85	0.737
MMSE score*	27.54 ± 2.48	27.30 ± 2.71	0.817	27.53 ± 2.21	0.828
MoCA score*	23.49 ± 5.07	24.20 ± 5.03	0.5801	24.93 ± 4.39	0.267
HAMD score	11.08 ± 7.31	9.30 ± 5.81	0.603	12.00 ± 7.13	0.479
HAMA score*	7.54 ± 5.38	5.60 ± 3.31	0.347	7.50 ± 3.93	0.644
PDSS score	120.18 ± 21.99	131.67 ± 12.86	0.196	113.09 ± 34.79	0.590
NMSQ score	9.37 ± 5.41	8.29 ± 3.68	0.748	8.92 ± 3.90	0.865

*Mann-Whitney non-parametric test was used for non-normal distribution data.

P/LP: pathogenic or likely pathogenic; LED: levodopa equivalent daily dose; UPDRS: Unified Parkinson’s disease Rating Scale; ADL: Activities of Daily Living; H-Y: Hoehn-Yahr staging; MMSE: Mini-Mental State Examination; MoCA: Montreal Cognitive Assessment; HAMD: 24-item Hamilton Rating Scale for Depression; HAMA: 14-item Hamilton Rating Scale for Anxiety; PDSS: Parkinson’s Disease Sleep Scale; NMSQ: Non-Motor Symptoms Screening Questionnaire.