Table 2.
Comparison of genetically confirmed ST‐1 patients from different ethnic groups.
| Clinical characteristics | Chinese mainland | Taiwan | Other Asian regions | European and American regions | Total |
|---|---|---|---|---|---|
| No. of cases | 12 | 23 | 10 | 32 | 77 |
| Ethnicity | The Han nationality | Taiwanese | East‐Asian, 1; Indian, 3; Korean, 1; Japanese, 5 | European, 27; American, 4; Ecuadorian, 1 | \ |
| Onset age (y) | 10.8 ± 2.7 (10 Ava) | 18.0 ± 6.6 (23 Ava)** | 15.8 ± 6.3 (9 Ava)* | 16.9 ± 6.7 (24 Ava)** | 16.0 ± 6.7 (66 Ava) |
| M/F | 7/5 | 17/6 | 6/4 | 9/18 (27 Ava) | 39/33 (72 Ava) |
| MCS | 100% (12, 12 Ava) | 100% (23, 23 Ava)# | 90.0% (9, 10 Ava)# | 93.3% (28, 30 Ava)# | 96.0% (72, 75 Ava) |
| Ataxia | 100% (9, 9 Ava) | 95.7% (22, 23 Ava)# | 100% (10, 10 Ava)# | 89.3% (25, 28 Ava)# | 94.3% (66, 70 Ava) |
| Blurred vision | 100% (11, 11 Ava) | 81.8% (18, 22 Ava)# | 28.6% (2, 7 Ava)** | 55.6% (10, 18 Ava)* | 67.2% (39, 58 Ava) |
| CRS | 72.7% (8, 11 Ava) | 27.3% (6, 22 Ava)* | 90.0% (9, 10 Ava)# | 55.2% (16, 29 Ava)# | 54.2% (39, 72 Ava) |
| VEP (abnormal P100) | 83.3% (5, 6 Ava) | 95.5% (21, 22 Ava)# | 100% (2, 2 Ava)# | 33.3% (3, 9 Ava)# | 79.5% (31, 39 Ava) |
| SEP (GCP) | 100% (4, 4 Ava) | 100% (22, 22 Ava)# | 100% (2, 2 Ava)# | 100% (7, 7 Ava)# | 100% (35, 35 Ava) |
| Brain MRI | 25.0% (2, 8 Ava) | 42.1% (8, 19 Ava)# | 42.9% (3, 7 Ava)# | 37.5% (6, 16 Ava)# | 38.8% (19, 49 Ava) |
| NEU1 mutation, c.544A > G | 75.0% (9, 12 Ava) | 100% (23, 23 Ava)* | 10.0% (1, 10 Ava)** | 0% (0, 32 Ava)** | 42.9% (33, 77 Ava) |
| NEU1 mutation, c.239C > T | 50.0% (6, 12 Ava) | 13.0% (3, 23 Ava)* | 10.0% (1, 10 Ava)# | 0% (0, 32 Ava)** | 13.0% (10, 77 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. European: German, 3; Dutchman, 3; Greek, 1; French, 3; Turkey, 3; Czech, 1; Italian, 9; Spaniard, 1; Portuguese, 3. Compared with Chinese mainland patients, *P < 0.05, **P < 0.01, # P > 0.05.