In the article “Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy” [Mol Syndromol. 2025;16(2):138–151. https://doi.org/10.1159/000540925] by Kasapkara et al., there was a typographical error in both the text relating to patient 7 and in Table 1.
Under the heading Patient 7 the seventh sentence reads:
“The ASA activity was 8.5 nmol/mg-17 h (normal activity >45), and a homozygous c.960G>T (p.Trp320*) mutation was revealed in the ARSA gene.”
It should read:
“The ASA activity was 8.5 nmol/mg-17 h (normal activity >45), and a homozygous c.960G>T (p.Trp320Cys) mutation was revealed in the ARSA gene.”
In addition, there was a typographical error in Table 1 in the row relating to the Molecular Analyses of ARSA gene of Patient 7, which read “c.960 G>T (p.Trp320a)” but should read “c.960 G>T (p.Trp320Cys).” The corrected table is shown below.
Table 1.
General demographics and characteristics of all patients
| Patient no. | Current age, months | Gender | Consanguinity | Antenatal/natal history | Onset symptoms | Age at symptom onset, months | Age at diagnosis, months | MLD type | Baseline ASA activity (nmol/h/mgprt) (>5) | Post-HSCT ASA activity (nmol/h/mgprt) (>5) | Molecular analyses of ARSA gene |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 67 | F | + | Full-term, 3,600 g | Difficulty walking and swallowing | 20 | 30 | LI | 0.31 | | c.418dupC (p.His140ProfsTer36) |
| 2 | 41 | F | + | Full-term, 3,500 g | – | – | 3 | LI | 2.5 | 7.33 | c.418dupC (p.His140ProfsTer36) |
| 3 | 65 | M | + | 35 GW, twin pregnancy, 2,600 g | Difficulty walking and spasticity | 18 | 30 | LI | 0 | | c.736C>T (p.Arg246Cys) |
| 4 | 70 | F | + | Full-term, 3,000 g | Difficulty walking and swallowing | 25 | 35 | LI | 7.8a | | c.583delT (p.Trp195GlyfsTer5) |
| 5 | 72, exitus | F | + | NDA | NDA | NDA | 56 | LI | 0.46 | | c.1167_1168insT (p.Ala390CysfsTer20) |
| 6 | 51 | M | + | Full-term, 3,150 g | Difficulty walking and frequent falls | 20 | 23 | LI | 4.26 | | c.1167_1168insT(p.Ala390CysfsTer20) |
| 7 | 52 | M | + | Full-term, 3,450 g | Difficulty walking | 22 | 25 | LI | 8.5a | | c.960 G>T (p.Trp320Cys) |
| 8 | 84 | F | + | Full-term, 3,500 g | Neurodevelopmental regression | 60 | 73 | J | 0.30 | | c.640G>A (p.Ala214Thr) |
| 9 | 47 | F | + | Full-term, 3,150 g | – | – | 36 | J | 0.20 | 26.17 | c.640G>A (p.Ala214Thr) |
GW, gestational weeks; M, male; F, female; ASA, arylsulfatase A enzyme; LI, late infantile; J, juvenile.
aARSA dried blood spot (DBS), normal range 45–260 nmol/h/mL.