Table 1.

Characteristics of investigated populations

Cohort	Individuals ( n )	Measurements ( n )	Age (first value)	Males ( n )	Females ( n )
			(median, IQR, number of cases)	Age (median, IQR)	Age (median, IQR)
NPC1 patients	110	241	13 (4-20)	33	33
			(n = 67)	13 (4-19)	12 (5-23)
NPC1 carriers	63	94	46 (25-54)	8	12
			(n = 20)	48 (27-56)	45 (14-53)
NP-A/B patients	21	21	9 (1-15)	10	4
			(n = 14)	7 (1-15)	11 (3-47)
NP-A/B carriers	5	5	7 (min-max: 2-35)	1	2
			(n = 3)	7 yrs	Med.: 19
Healthy controls	43	47	41 (20-50)	3	9
			(n = 12)	51 (min-max: 4-71))	38 (21-46)

Individual level data on age and gender was not documented for all samples. Age and gender are stated only where available.