Cohort ID | Age at diagnosis (y,m) | Reason for diagnosis | ARSA activity at HSCT (nmol/hr/mg) | Urine sulfatides Elevated? (μg/mg creatinine) | White matter abnormality on brain MRI at HSCT? | NCV Abnormality at HSCT? | VABS Reported?! | VIQ Reported?! | Notes |
---|---|---|---|---|---|---|---|---|---|
Late infantile | Â | Â | Â | Â | Â | Â | Â | Â | Â |
1 | 0,1 | Fam | Lowa | Yes (3.4) | No Data | Yes | Â | Â | Sibling proband symptomatic before 2Â years old |
2 | 0,1 | Fam | 3.3 | Yesa | No | Yes | Yes | Â | Sibling proband symptomatic before 2Â years old |
3 | 0,4 | Fam | 3.0 | Yes (4.9) | Yes | Yes | Yes | Â | Sibling proband symptomatic before 2Â years old |
6 | 1,3 | Fam/SS | Lowa | Yes (4.8) | Yes | Yes | Yes | Yes | Two sibling probands symptomatic at 2Â years old |
Juvenile | Â | Â | Â | Â | Â | Â | Â | Â | Â |
4 | 0,5 | Fam | 9.2 | Yes (2.5) | No Data | Yes | Yes | Yes | Â |
9 | 3,11 | SS | 3.9 | Yes (Excessiveb) | Yes | Yes | Yes | Yes | Â |
5 | 0,10 | Fam | Lowa,c | Yes (5.2) | No Data | Yes | Yes | Â | Sibling proband symptomatic at 3Â years old |
7 | 2,2 | Fam | Lowa | Yes (10.3) | Yes | Yes | Â | Â | Sibling proband symptomatic before 8Â years old |
8 | 3,1 | Fam | 2.0 | Yes (10.9) | Yes | Yes | Â | Yes | Sibling proband symptomatic before 5Â years old |
22 | 10,10 | Fam | 8.6 | Yes (Excessiveb) | Yes | Yes | Yes | Yes | Sibling proband symptomatic at 11Â years old |
10 | 5,2 | Fam/SS | 5.5 | Yes (6.7) | Yes | Yes | Yes | Yes | Â |
11 | 5,7 | SS | 3.4 | Yes (6.4) | Yes | Yes | Â | Â | Â |
12 | 5,8 | SS | 8.8 | Yes (5.9) | Yes | No Data | Â | Â | Â |
13 | 6,0 | SS | 9.3 | Yes (3.6) | Yes | Yes | Â | Â | Â |
14 | 6,0 | SS | 8.9 | Yes (17.9) | Yes | Yes | Â | Â | Â |
15 | 6,4 | Fam/SS | 8.3 | Yes (Excessiveb) | No Data | Yes | Â | Â | Â |
16 | 7,2 | SS | 2.7 | Yes (7.9) | Yes | Yes | Yes | Yes | Â |
17 | 7,6 | SS | 6.7 | Yes (9.3) | Yes | Yes | Yes | Â | Â |
18 | 8,3 | Fam/SS | 11.2 | Yes (Excessiveb) | No Data | Yes | Â | Â | Â |
19 | 8,5 | SS | 15.5 | Yes (5.4) | Yes | Yes | Yes | Â | Â |
20 | 9,9 | Fam/SS | 1.9 | Yes (3.0) | Yes | Yes | Â | Â | Â |
21 | 10,3 | Fam/SS | 43.2 | Yes (1.1) | Yes | Yes | Â | Â | Â |
23 | 10,11 | SS | 10.1 | Yes (1.2) | Yes | Yes | Â | Â | Â |
24 | 14,2 | Fam/SS | 5.2 | Yes (3.1) | Yes | Yes | Yes | Â | Â |
25 | 15,6 | SS | 3.6 | Yes (0.7) | Yes | Yes | Â | Â | Â |
26 | 15,9 | SS | 4Â % normald | Yes (2.4) | Yes | Yes | Yes | Yes | Â |
27 | 15,10 | SS | 6.8 | Yes (Excessiveb) | Yes | Yes | Yes | Yes | Â |
28 | 15,11 | SS | 7.7 | Yes (3.2) | Yes | Yes | Â | Â | Â |
30 | 19,8 | SS | 6.0 | Yes (Excessiveb) | Yes | Yes | Â | Â | Â |
32 | 26,4 | SS | 35.1 | Yes (Excessiveb) | Yes | Yes | Yes | Â | Â |
43 | 19,2 | SS | 4.1 | Yes (Excessiveb) | Yes | Yes | Â | Â | Â |
Adult | Â | Â | Â | Â | Â | Â | Â | Â | Â |
42 | 20,1 | Fam | 7.9 | Yes (1.3) | Yes | Yes | Â | Â | Two older siblings reportedly with MLD |
31 | 26,0 | SS | 3.7 | Yes (3.8) | Yes | No | Â | Â | Â |
33 | 28,10 | SS | 8.7 | Yes (3.5) | Yes | Yes | Â | Yes | Â |
34 | 32,0 | Fam/SS | 10.3a | No Data | Yes | No | Â | Â | Sibling of Patient ID 33 |
36 | 35,9 | SS | 3.5a | Yesa | Yes | No | Yes | Yes | Â |
38 | 40,0 | Fam/SS | 5.9 | Yes (8.2) | Yes | Yes | Â | Â | Â |
39 | 42,0 | SS | 10Â % normald | Yesa | Yes | Yes | Yes | Yes | Â |
40 | 42,1 | Fam/SS | Lowa | Yes (6.6) | Yes | Yes | Â | Â | Â |
41 | 43,10 | SS | 21.8 | Yes (6.6) | Yes | Yes | Yes | Yes | Â |