Table 1 Analyzed siblings with MLD
From: Phenotypic variation between siblings with Metachromatic Leukodystrophy
Sibling pairs | Gender | MLD-form | Age at onset, years | Type of onset | MRI-score, early stage | Genotype | |
|---|---|---|---|---|---|---|---|
1 | .1 .2 | m f | late-infantile | 1.8a 2.1 | motor | 16 16 | c.575C > G; c.733G > Ab |
2 | .1 | m | late-infantile | 1.5a | motor | – | – |
.2 | f | 1.5 | – | ||||
3 | .1 | f | late-infantile | 0.8a | motor | 20 | c.449C > T; c.449C > T |
.2 | f | 1.8 | 20 | ||||
4 | .1 | m | juvenile | 11a | cognitive | 20 | c.542 T > G; c.1468 T > C |
.2 | f | 12.4 | 20 | ||||
5 | .1 | f | juvenile | 5.6a | mixed | – | – |
.2 | f | 6.7 | – | ||||
6 | .1 | f | juvenile | 6.2a | motor | 15 | c.465 + 1G > A; c.1283C > T |
.2 | f | 4.7 | 14 | ||||
7 | .1 | f | juvenile | 14a | mixed | c.1283C > T; c.1283C > T | |
.2 | f | 11.9 | 15 | ||||
8 | .1 | m | juvenile | 6.5a | cognitive | 18 | c.465 + 1G > A; c.542 T > G |
.2 | m | 13.5 | 17 | ||||
9 | .1 | m | juvenile | 10a | motor | – | c.1283C > T; c.1283C > T |
.2 | f | 15 | – | ||||
10 | .1 | f | juvenile | 8 | mixed | 19 | c.465 + 1G > A; c.1283C > T |
.2 | m | 5 | 20 | ||||
11 | .1 | m | juvenile | 6.7 | motor | 22 | – |
.2 | f | 6 | 21 | ||||
12 | .1 | m | juvenile | 5 | motor | 20 | – |
.2 | m | 5 | 20 | ||||