Table 4.

Clinical measures and demographics of clinical cohort (n = 1954)

Variable	Total (n = 1954)	Negative (n = 1665)	GBA1 (n = 169)	LRRK2 (n = 51)	PRKN, het (n = 27)	PRKN, bi (n = 18)	SNCA (n = 7)a
Clinical measurement, mean (SD), (IQR)
MoCA	26.5 (3.00), (25.0–29.0)	26.5 (2.90), (25.0–29.0)	26.1 (3.40), (25.0–28.0)	27.4 (2.30), (27.0–29.0)	26.2 (2.90), (25.0–28.0)	26.8 (2.20), (26.0–28.0)	22.3 (2.50), (20.5–24.0)
MDS-UPDRS	48.3 (23.1), (31.0–62.0)	47.7 (22.3), (31.0–61.0)	52.5 (25.8), (34.2–66.0)	40.6 (25.6), (28.2–42.0)	51.2 (26.2), (32.0–59.2)	48.6 (33.3), (27.0–48.0)	81.2 (19.0), (68.0–95.0)
Hoehn and Yahr	2.0 (0.7), (2.0–2.0)	2.0 (0.7), (2.0–2.0)	2.0 (0.6), (2.0–2.0)	2.0 (0.7), (2.0–2.0)	1.9 (0.7), (2.0–2.0)	2.3 (1.0), (2.0–2.5)	2.3 (0.5), (2.0–2.5)
Demographic, mean (SD), (IQR)
Age, years	64.7 (10.0), (59.0–72.0)	65.1 (9.80), (59.0–72.0)	62.4b(9.70), (56.0–69.0)	66.2 (8.00), (61.0–71.0)	64.8 (9.90), (60.0–71.0)	52.3b (15.2), (37.5–62.5)	54.4 (15.6), (43.0–60.0)
Sex, % males (n/total)	57% (1110/1954)	58% (960/1665)	51% (87/169)	47% (24/51)b	63% (17/27)	33% (6/18)	57% (4/7)
AAO of PD, years	59.3 (10.7), (53.0–67.0)	59.8 (10.5), (53.0–67.0)	57.2b (10.2), (50.0–65.0)	60.9 (8.0), (55.0–66.5)	57.9 (10.7), (50.0–65.0)	41.2b (15.0), (30.8–49.5)	50.0 (16.7), (39.0–56.5)
Disease duration	5.40 (5.20), (2.00–8.00)	5.30 (5.10), (2.00–8.00)	5.20 (4.80), (2.00–8.00)	5.30 (4.70), (1.50–8.00)	7.00 (6.90), (1.00–11.5)	11.2 (12.2), (2.20–15.0)	4.40 (2.90), (2.00–5.50)

AAO = age at onset; bi = biallelic (i.e. homozygous or compound heterozygous); het = heterozygous (i.e. single variant detected); IQR = interquartile range; MDS-UPDRS = Movement Disorder Society-Unified Parkinson’s Disease Rating Scale; MoCA = Montreal Cognitive Assessment; PD = Parkinson’s disease; SD = standard deviation.

^aInsufficient count for statistical comparison.

^b P < 0.001.