Table 3 Onset, genotype and MRI pattern of all Krabbe disease forms
From: Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
Pat. no. | Onset in months | Genotype | Age at first MRI in months | MRI Pattern | |||||
|---|---|---|---|---|---|---|---|---|---|
Allele 1c | Allele 1p | Allele 2c | Allele 2p | Heterozygous father | Heterozygous mother | ||||
Early-infantile | |||||||||
1 | 0 | 6 | A1 | ||||||
2 | 1 | ||||||||
3 | 2 | ||||||||
4 | 2 | c.1161 + 6532_polyA + 9kbdel | c.1586C > T | p.Thr529Met | 4 | A1 | |||
5 | 2,5 | 4,5 | A1 | ||||||
6 | 3 | 6 | A1 | ||||||
7 | 3 | c.908C > T | p.Ser303Phe | c.908C > T | p.Ser303Phe | Consanguine parents | 4,5 | 1 | |
8 | 3 | 4,5 | A1 | ||||||
9 | 3 | ||||||||
10 | 3 | ||||||||
11 | 3,5 | ||||||||
12 | 4 | c.966delA | p.Cys322Trpfs* | c.1901 T > C | p.Leu634Ser | 5,5 | A1 | ||
13 | 4 | 4,5 | A1 | ||||||
14 | 4 | 8 | A1 | ||||||
15 | 4 | ||||||||
16 | 4 | c.1161 + 6532_polyA + 9kbdel | p.Arg168Cys | c.905C > G | p.Thr302Ser | yes (point mutation in exon 9) | yes (30 kb deletion) | 5 | A1 |
17 | 5 | 8,5 | A1 | ||||||
18 | 5 | 7 | A1 | ||||||
19 | 5 | c.453G > A | p.Trp151* | c.1586C > T | p.Thr529Met | yes (c.1586C > T) | yes (c.453G > A) | 7 | A1 |
20 | 5 | ||||||||
21 | 6 | ||||||||
22 | 6 | 10 | A1 | ||||||
23 | 6 | 6,5 | A1 | ||||||
24 | 6 | c.430delA | p.lle144Leufs*27 | c.1186C > T | p.Arg396Trp; Exon 11 | yes for mutation (c.1186C > T) | yes for deletion (c.430delA) | ||
25 | 6 | c.1161 + 6532_polyA + 9kbdel | c.1161 + 6532_polyA + 9kbdel | yes (30 kb deletion) | yes (30 kb deletion) | 8,5 | A1 | ||
26 | 6 | 6 | A1 | ||||||
27 | 6 | 12,5 | A1 | ||||||
Late-infantile | |||||||||
28 | 9 | 11,5 | A2 | ||||||
29 | 9 | ||||||||
30 | 10,5 | c.1161 + 6532_polyA + 9kbdel | c.1586C > T | p.Thr529Met | yes (30 kb deletion) | yes for mutation (c.1586C > T) | 11,5 | B1 | |
Later onset | |||||||||
31 | 36 | c.205C > T | p.Arg69* | c.1700A > C | p.Try567Ser | results not available | results not available | 18 | B1 |
32 | 17 | c.1627G > C | p.Ala543Pro | c.1627G > C | p.Ala543Pro | yes | yes | 40 | B1 |
33 | 36 | 154 | B1 | ||||||
34 | 60 | 62 | B1 | ||||||
35 | 70 | c.430delA | p.Ile144Leufs*27 | c.857G > A | p.Gly286Asp | yes for mutation (c.857G > A) | yes for deletion (c.430delA) | 75 | B1 |
Adolescent and adult onset | |||||||||
36 | 144 | c.1161 + 6532_polyA + 9kbdel | c.1829A > C | p.Asp610AIa | yes (30 kb deletion) | yes for mutation (c.1829A > C) | 160 | B1/B2 | |
37 | 228 | ||||||||
38 | 720 | c.1161 + 6532_polyA + 9kbdel | Second pathogenic variant could not be found | 835 | B2 | ||||