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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
  1. 1 MRI not assessable