Table 3.
Comparison of genetically confirmed ST‐1 patients with different genotypes.
| Mutation types | c.544A > G; c.239C > T | Homozygous c.544A > G | c.649G > A; c.727G > A | Homozygous c.200G > T | c.679G > A; c.913C > T | c.1195_1200dup; c.679G > A | c.159G > A; c.1127G > T | c.914G > A; c.625delG | c.700G > A; c.1021C > T |
|---|---|---|---|---|---|---|---|---|---|
| Ethnic regions (No.) | 8 | 18 | 3 | 3 | 3 | 2 | 2 | 2 | 2 |
| mainland China | 5 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Taiwan | 3 | 16 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| other Asian regions | 0 | 0 | 3a | 0 | 0 | 0 | 0 | 0 | 0 |
| European and American regions | 0 | 0 | 0 | 3b | 3b | 2b | 2b | 2a | 2a |
| Onset age (y) | 11.6 ± 3.1 (8 Ava) | 20.6 ± 6.3 (16 Ava)** | 21.3 ± 9.3 (3 Ava) | 23.3 ± 1.5 (3 Ava) | 27.3 ± 4.0 (3 Ava) | 10.5 ± 2.1 (2 Ava) | 16.0 ± 1.4 (2 Ava) | 17.0 ± 0 (2 Ava) | 26c |
| M/F | 4/4 | 14/4 | 2/1 | 1/2 | 1/2 | 0/2 | 0/2 | 0/2 | 1/0c |
| MCS | 100% (8, 8 Ava) | 100% (18, 18 Ava)# | 100% (3, 3 Ava) | 100% (3, 3 Ava) | 100% (3, 3 Ava) | 100% (2, 2 Ava) | 100% (2, 2 Ava) | 100% (2, 2 Ava) | 100% (2, 2 Ava) |
| Ataxia | 100% (6, 6 Ava) | 94.1% (16, 17 Ava)# | 100% (3, 3 Ava) | 100% (3, 3 Ava) | 100% (3, 3 Ava) | 50.0% (1, 2 Ava) | 100% (2, 2 Ava) | 100% (2, 2 Ava) | 100% (1, 1 Ava) |
| Blurred vision | 100% (8, 8 Ava) | 81.3% (13, 16 Ava)# | 50.0% (1, 2 Ava) | 0% (0, 3 Ava) | 0% (0, 2 Ava) | 100% (2, 2 Ava) | U | 0% (0, 2 Ava) | 100% (2, 2 Ava) |
| CRS | 75.0% (6, 8 Ava) | 6.3% (1, 16 Ava)** | 100% (3, 3 Ava) | 0% (0, 3 Ava) | 0% (0, 2 Ava) | 100% (2, 2 Ava) | 50.0% (1, 2 Ava) | 0% (0, 2 Ava) | 100% (2, 2 Ava) |
| VEP (abnormal P100) | 80.0% (4, 5 Ava) | 93.8% (15, 16 Ava)# | U | 0% (0, 3 Ava) | 0% (0, 3 Ava) | U | U | U | U |
| SEP (GCP) | 100% (5, 5 Ava) | 100% (15, 15 Ava)# | U | 100% (3, 3 Ava) | 100% (3, 3 Ava) | U | U | 100% (1, 1 Ava) | U |
| Brain MRI | 33.3% (1, 3 Ava) | 43.8% (7, 16 Ava)# | 0% (0, 2 Ava) | 33.3% (1, 3 Ava) | 0% (0, 3 Ava) | 0% (0, 2 Ava) | U | 100% (1, 1 Ava) | 100% (1, 1 Ava) |
ST‐1, Type I sialidosis; Ava, available; M, male; F, female; MCS, myoclonus seizures; CRS, cherry red spot; VEP, visual evoked potential; SEP, somatosensory evoked potential; GCP, giant cortical potential; MRI, magnetic resonance imaging; U, unsure. a, the patients came from different families; b, the patients were siblings. c, only one patient’s data can be acquired. Compared with the heterozygous c.544A > G and c.239C > T mutation patients, **P < 0.01, # P > 0.05.