Table 3.
Clinical Characteristics at Presentation
| Feature | All | Ala97Ser | Phe64Leu | Ser77Tyr | Val30Met | Other |
|---|---|---|---|---|---|---|
| Any Reported | 374 (69%) | 35 (9%) | 22 (6%) | 48 (13%) | 141 (38%) | 128 (34%) |
| Autonomic | 199 (53%) | 27 (77%) | 18 (82%) | 5 (10%) | 74 (52%) | 75 (59%) |
| Unspecified | 47 | 0 | 7 | 1 | 22 | 17 |
| Urinary | 36 | 7 | 3 | 0 | 16 | 10 |
| Gastrointestinal | 114 | 22 | 6 | 3 | 39 | 44 |
| Cardio | 96 | 15 | 7 | 1 | 34 | 39 |
| Respiratory | 3 | 0 | 0 | 0 | 0 | 3 |
| Impotence | 51 | 18 | 5 | 1 | 13 | 14 |
| Sweat | 20 | 7 | 3 | 1 | 4 | 5 |
| Sensory | 326 (87%) | 25 (71%) | 22 (100%) | 45 (94%) | 127 (90%) | 107 (84%) |
| Unspecified | 76 | 21 | 5 | 0 | 25 | 25 |
| Lower Limbs | 219 | 2 | 15 | 37 | 100 | 65 |
| Upper Limbs | 133 | 2 | 10 | 35 | 48 | 38 |
| Carpal Tunnel | 42 | 4 | 4 | 0 | 7 | 27 |
| Motor | 215 (57%) | 10 (29%) | 15 (68%) | 32 (67%) | 79 (56%) | 79 (62%) |
| Unspecified | 67 | 9 | 4 | 0 | 33 | 21 |
| Lower Limbs | 138 | 0 | 11 | 28 | 46 | 53 |
| Upper Limbs | 83 | 1 | 10 | 10 | 33 | 29 |
| Other | 1 | 0 | 0 | 0 | 0 | 1 |
| Miscellaneous | 155 (41%) | 4 (11%) | 17 (77%) | 14 (29%) | 39 (28%) | 81 (63%) |
| Cardiomyopathy | 93 | 4 | 15 | 2 | 28 | 44 |
| Visual (Non-Motor) | 49 | 0 | 2 | 13 | 9 | 25 |
| Weight Loss | 35 | 0 | 2 | 2 | 9 | 22 |
Specific genotypes shown are those with ≥4% representation among the included cases. Genotypes with < 4% representation are listed as “Other”. Refer to Additional file 1: Appendix A for a list of genotypes included in the “Other” category