Table 1.

Clinical Summary of the 30 Families Included in the Study^[Note]

Family	CellLineCode	BiochemicalPhenotypea	ClinicalPhenotypeb	Age atDeath(years)	Age atLastFollow-up(years)	Ethnicity	Consanguinity	ParentsAvailable	Reference
1	98119	Classic	Infantile		2.83	African American	No	No	Dawson et al. 1971
2	80001	Classic	A: Infantile	3.83		Gypsy	Yes	No	Vanier et al. 1988, case 2
			B: Infantile	3.33
			C: Cholestatic	.30
3	87024	Classic	A: Infantile	2.58		Tunisian	Yes	Yes	Kanoun et al. 1989
			B: Cholestatic	.25
4	91029	Classic	A: Infantile	5.16		French	Yes	Yes
			B: Infantile	4.92
5	81057	Classic	A: Cholestatic	.04		French	Yes	No	Vanier et al. 1988, case 10
			B: Infantile	3.16
6	83024	Classic	Infantile	5.08		Turkish	Likely	No
7	83049	Classic	Infantile	5.33		French/West Indies	No	No	Vanier et al. 1988, case 13
8	82052	Classic	Infantile	3.5		French	No	No	Vanier et al. 1988, case 8 Vanier et al. 1999
9	79011	Classic	Infantile	5.0		Tunisian	No	No	Vanier et al. 1988, case 14
10	96115	Classic	Severe late infantile		4.50	French/West Indies	No	Yes
11	82042	Classic	Late infantile	5.75		French	No	No	Vanier et al. 1988, case 16
12	95085	Classic	A: No neurological signs (cardiac problem)	1.00		Pakistani	Yes	No
			B: Late infantile		6.00
			C: Late infantile		5.75
13	90104	Variant	Late Infantile	10		German	No	Yes
14	93094	Classic	A: Late infantile	11.66		French	No	Yes	Millat et al. 1999, family 8
			B: Late infantile	8.00
15	91048	Classic	A: Juvenile		24	French	No	Yes	Millat et al. 1999, family 1
			B: Juvenile		20
			C: Juvenile		20
			D: Juvenile	16
16	98009	Classic	Juvenile		32	French	No	No	Millat et al. 1999, family 15
17	90096	Variant	A: Juvenile	18		British	No	Yes
			B: Juvenile		24
18	94139	Variant	Juvenile		25	British	No	No
19	92114	Variant	A: Juvenile		28	German	No	No
			B: Juvenile		22
20	95070	Variant	Juvenile		13	British	No	No
21	97089	Variant	Juvenile		20	Dutch	Yes	Yes
22	96017	Variant	Adult		43.5	French	No	Yes
23	96157	Classic	A: Adult	37		German	No	No
			B: Adult		41
24	90002	Variant	Adult without neurological symptoms (simple psychic structure)		66	German	Yes	No	Fröhlich et al. 1990
25	97014	Classic	Adult without neurological symptoms		50	British	No	No	Fensom et al. 1999
26	96084	Classic	No neurological symptoms		7.5	French	No	Yes
27	91144	Variant	No neurological symptoms		9.0	French	No	Yes
28	86065	Classic	Cholestatic	1.08		Tunisian	Yes	No	Vanier et al. 1988, case 39
29	97114	Classic	Cholestatic	.25		Turkish	Yes		Baumkötter et al. 1998
30	97119	Classic	Cholestatic	.5		French	No	No

Note.— Families 1–25 are listed in order of decreasing severity of neurological phenotypes. Patients 26–30 could not be classified neurologically (too limited follow-up or early death resulting from liver failure).

^aDefined by the degree of severity of alterations of intracellular cholesterol processing (Vanier et al. 1991b).

^bClassification of clinical phenotypes by age at onset of neurological symptoms (except for the cholestatic rapidly fatal form) (Vanier and Suzuki 1996).