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Table 4 Genetic variants, GALC activity, and initial symptoms

From: A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

Patient Number Age of Onset (months) Initial Symptoms GALC Activity Allele 1 Allele 2
1 6 Loss of developmental milestones 0.02 p.Thr529Met 30 kb deletion (exon 11–17)
2 6 Motor delay; Macrocephaly 0.06 30 kb deletion (exon 11–17) p.Ile546Thr
3 6 Poor feeding 0 p.Gly57Ser; p.Ile562Thr 30 kb deletion (exon 11–17)
4 6 Irritability; Abnormal muscle tone 0 Unknown Unknown
5 7 Motor delay 0.29 p.Gly284Ser 30 kb deletion (exon 11–17)
6 7 Loss of developmental milestones 0 p.Gly284Ser; p.Ile562Thr p.Ile562Thr; p.Leu650Pro
7 7.5 Abnormal tone 0 p.Arg82Gly; p.Asp248Asn; p.Tyr319Cys p.Ser303Phe; p.Ile562Thr
8 8 Loss of developmental milestones 0.04 p. Arg82Gly; p.Asp248Asn; p.Ala306Thr p. Arg82Gly; p.Asp248Asn; p.Ala306Thr
9 8 Irritability; Abnormal muscle tone; Loss of developmental milestones 0.1 30 kb deletion (exon 11–17) p.Thr529Met; p.Ile562Thr
10 8 Motor delay; Loss of developmental milestones 0.05 Unknown Unknown
11 8 Loss of developmental milestones 0.13 Unknown Unknown
12 9 Motor delay 0 30 kb deletion (exon 11–17) p.Arg531Cys
13 9 Poor feeding 0.06 p.Ile128Lfsx27; p.Arg184Cys; p.Ile562Thr p.Leu645Arg
14 10 Irritability 0.02 30 kb deletion (exon 11–17) p.Leu325X
15 10 Loss of developmental milestones 0 Unknown Unknown
16 10 Irritability; Loss of developmental milestones 0.05 Unknown Unknown
17 11 Irritability; Loss of developmental milestones 0.2 p.Thr529Met p.Thr529Met
18 12 Abnormal gait 0 p.Met117Val; p.Ile562Thr p.Ser303Pro; p.Ile562Thr
19 12 Motor Delay 0.05 Unknown Unknown
20 12 Irritability; Loss of developmental milestones 0.05 Unknown Unknown
21 12 Irritability; Decreased movements; Loss of developmental milestones 0.05 Unknown Unknown
22 12 Irritability; Abnormal muscle tone 0 Unknown Unknown
23 12 Loss of developmental milestones 0.05 p.Thr529Met p.Tyr567Ser
24 15 Abnormal gait 0 Unknown Unknown
25 17 Loss of developmental milestones 0 p.Ala225Glu p.Gly284Ser; p.Ile562Thr
26 24 Abnormal gait 0.12 p.Thr625Ala; Leu634Ser p.Arg127Cys
27 24 Abnormal gait 0.08 Unknown Unknown
28 25 Loss of vision; Irritability 0 Unknown Unknown
29 25 Abnormal gait; Irritability 0.05 Unknown Unknown
30 28 Abnormal gait; Slurred speech; Irritability 0.06 p.Arg127X; p.Ile562Thr p.Gly284Ser; p.Ile562Thr
31 30 Loss of vision 0 p.Tyr319Cys p.Tyr319Cys
32 31 Abnormal gait; Slurred speech 0.07 p.Met117Val; p.Ile562Thr p.Ser303Phe p.Ile562Thr
33 Asymptomatic N/A 0 p.Met117Val; p.Ile562Thr p.Ser303Pro; p.Ile562Thr
34 Asymptomatic N/A 0 Unknown Unknown
35 Asymptomatic N/A 0.08 Unknown Unknown
  1. Displays the initial symptoms, GALC activity (measured in nmol/mg/h protein), and available genetic data (n = 20) for each patient. All mutations are transcribed based on standardized nomenclature from the Human Genome Variation Society (HGVS) [39]. Multiple variants located on the same allele are separated by a semi-colon. Patient 33, 34, and 35 were diagnosed and transplanted while still asymptomatic due to a family history of Krabbe disease. Patient 33 is the younger sibling of patient 18 and patient 35 is the younger sibling of patient 19 and 24. The older sibling of patient 34 was not included in the study