Table 1.
Overview of included patients, demographics and clinical outcome
| Pt ID | Gender | Group | GALT_1/GALT_2 | GALT activity, % | IQ | Tremor/ TRS | Dystonia/ DRS | POI | BMD Z-score ≤ −2 SD |
|---|---|---|---|---|---|---|---|---|---|
| 1 | M | Non-screened | p.Gln188Arg/400delT | <3.3 | – | – | – | NA | No |
| 2 | F | Non-screened |
p.Gln188Arg/p.Lys285Asn p.Lus285Asn |
<3.3 | 77 | – | – | No | – |
| 3 | M | Non-screened | p.Gln188Arg/p.Ser135Trp | <3.3 | >85 | – | – | NA | – |
| 4 | M | Non-screened | −/− | <3.3 | – | – | – | NA | – |
| 5 | F | Non-screened | p.Ser135Trp/p.Arg51Gln | <3.3 | 78 | – | – | Yes | Yes |
| 6 | M | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | – | Yes/7 | No/− | NA | – |
| 7 | F | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | 78 | – | – | Yes | No |
| 8 | F | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | – | Yes/− | No/− | Yes | No |
| 9 | M | Non-screened | p.Gln188Arg/p.Lys127Glu | <3.3 | 70 | – | – | NA | – |
| 10 | M | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | 74 | – | – | NA | No |
| 11 | M | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | 45 | Yes/38 | Yes/6 | NA | No |
| 12d | F | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | 81 | Yes/4 | No/0 | Yes | No |
| 13 | M | Non-screened | c.329-2A>C/c.329-2A>C | <3.3 | – | Yes/− | No/− | NA | Yes |
| 14 | F | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | 83 | – | – | Yes | No |
| 15 | F | Non-screened | p.Gln188Arg/p.Ser135Trp | <3.3 | 57 | – | – | Yes | No |
| 16 | F | Non-screened | p.Gln188Arg/p.Gln188Arg | – | 53 | No/4 | No/0 | Yes | No |
| 17 | F | Non-screened | c.329-2A>C/c.329-2A>C | <3.3 | – | No/− | No/− | Yes | No |
| 18 | F | Non-screened | p.Ser135Leu/p.Ser135Leu | <3.3 | 71 | No/1 | No/0 | No | – |
| 19 | F | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | 82 | No/0 | No/0 | ? | No |
| 20c | F | Non-screened | p.Gln188Arg/p.Leu195Pro | <3.3 | 88 | Yes/5 | No/0 | Yes | No |
| 21 | F | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | 71 | – | – | ? | No |
| 22 | M | Non-screened | p.Gln188Arg/p.Gln188Arg | – | 91 | – | – | NA | No |
| 23 | M | Non-screened | p.Gln188Arg/p.Lys195Pro | <3.3 | 93 | No/0 | No/0 | NA | No |
| 24 | M | Non-screened | p.Gln188Arg/p.Ser135Trp | <3.3 | 98 | No/0 | No/0 | NA | No |
| 25 | F | Non-screened | p.Arg205*/p.Trp316* | <3.3 | 97 | – | – | No | Yes |
| 26a | M | Non-screened | p.Gln188Arg/p.Lys285Asn | <3.3 | 76 | Yes/7 | No/0 | NA | No |
| 27a | M | Non-screened | p.Gln188Arg/p.Lys285Asn | <3.3 | 86 | Yes/6 | No/0 | NA | No |
| 28 | F | Non-screened | p.Ser135Leu/p.Ser135Leu | 3.9 | 61 | No/0 | No/0 | No | No |
| 29 | M | Non-screened | p.Gln188Arg/p.Ser135Trp | 3.9 | 65 | Yes/6 | No/0 | NA | No |
| 30e | M | Non-screened | p.Gln188Arg/c.377 + 7A>C | <3.3 | 87 | No/3 | No/0 | NA | No |
| 31 | M | Non-screened | p.Gln188Arg/p.Lys285Asn | <3.3 | 49 | Yes/29 | Yes/4 | NA | No |
| 32 | M | Non-screened | p.Gln188Arg/p.Leu195Pro | <3.3 | 103 | Yes/8 | No/0 | NA | No |
| 33b | F | Non-screened | p.Arg148Gln/p.Trp316* | <3.3 | 88 | Yes/13 | No/0 | ? | No |
| 34 | F | Non-screened | p.Gln188Arg/p.Gln188Arg | <3.3 | 46 | Yes/− | No/− | – | No |
| 35f | F | Screened, FS | p.Gln188Arg/p.Gln188Arg | <3.3 | 77 | Yes/4 | No/0 | Yes | No |
| 36 | M | Screened, FS | p.Gln188Arg/p.Lys127Glu | <3.3 | 61 | – | – | NA | No |
| 37 | F | Screened, FS | p.Gln188Arg/p.Arg148Gln | <3.3 | – | – | – | No | – |
| 38f | F | Screened, FS | p.Gln188Arg/p.Gln188Arg | <3.3 | 71 | – | – | Yes | No |
| 39d | F | Screened, FS | p.Gln188Arg/p.Gln188Arg | <3.3 | 61 | Yes/34 | Yes/1 | Yes | Yes |
| 40c | F | Screened, FS | p.Gln188Arg/p.Leu195Pro | <3.3 | 52 | Yes/10 | Yes/2 | ? | – |
| 41e* | M | Screened, FS | p.Gln188Arg/c.377 + 7A>C | <3.3 | 95 | – | – | NA | Yes |
| 42b* | M | Screened, FS | p.Arg148Gln/p.Trp316* | <3.3 | 68 | Yes/− | No/− | NA | No |
| 43* | F | Screened, NBS | p.Gln188Arg/p.Leu195Pro | <3.3 | 82 | No/− | No/− | – | – |
| 44* | F | Screened, NBS | p.Gln188Arg/p.Gln188Arg | <3.3 | 64 | No/− | No/− | – | – |
| 45* | M | Screened, NBS | p.Gln188Arg/p.Gln188Arg | <3.3 | 89 | No/− | No/− | NA | – |
| 46* | M | Screened, NBS | p.Gln188Arg/p.Gln188Arg | <3.3 | 64 | No/− | No/− | NA | – |
| 47* | F | Screened, NBS | p.Gln188Arg/p.Gln188Arg | <3.3 | 70 | No/− | No/− | – | – |
| 48* | M | Screened, NBS | p.Ser135Leu/p.*380Argext*50 | <3.3 | 95 | No/− | No/− | NA | – |
| 49* | F | Screened, NBS | p.Gln188Arg/p.Gln188Arg | <3.3 | 83 | – | – | – | – |
| 50g* | F | Variant | p.Val128lle/p.Val128lle | 8.7 | 86 | No/− | No/− | – | – |
| 51g* | F | Variant | p.Val128lle/p.Val128lle | 8.7 | 89 | No/− | No/− | – | – |
| 52* | M | Variant | p.Gln188Arg/p.Met219Lys | 7.2 | 96 | No/− | No/− | NA | – |
| 53* | F | Variant | p.Gln188Arg/c.1-96T>G | 3.6 | 86 | No/− | No/− | – | – |
| 54g* | M | Variant | p.Val128lle/p.Val128lle | 9.3 | 91 | No/− | No/− | NA | – |
| 55* | M | Variant | p.Arg201His/p.Arg201His | 8.9 | – | – | – | NA | – |
| 56g* | F | Variant | p.Val128lle/p.Val128lle | 6.3 | – | – | – | – | – |
*Age <12 years.
Pt ID: patient ID; F: female; M: male; FS: family screening; IQ: intelligence quotient; TRS: tremor rating scale; DRS: dystonia rating scale; BMD: bone mineral density; NA: not applicable; -: data not available; ?: data unclear; a, b, c, d, e, f: sibs, patients are ordered by group and listed by decreasing age; grey shades: age <12 years; bold: patients diagnosed late.