Clinical features of patients with HSP27 R127W mutation
| Patient No | Sex | Age at onset (years) | Duration of disease (years) | FDS | Upper hands scale | Romberg sign | Weakness | Atrophy | Sensation loss | Reflexes | Plantar response | Pes cavus hammertoes | Hands tremor | Trophic alterations | Additional symptoms | |||||||
| Touch and pinprick | Vibration and joint position | Upper limb | Ankle jerks | Knee jerks | ||||||||||||||||||
| UL | LL | UL | LL | UL | LL | UL | LL | |||||||||||||||
| IV:2 | M | 27 | 17 | 4 | 2 | + | + | + | + | + | − | + | − | + | N | ↑↑ | ↑↑ | E | − | + | + | Spastic paraplegia, bladder and sexual dysfunctions, cramps |
| IV:22 | F | 34 | 4 | 1 | 1 | + | + | + | + | + | − | + | − | + | − | − | − | NE | + | + | − | |
| III:15 | F | 43 | 14 | 4 | 4 | + | + | + | + | + | − | + | + | + | ↓ | − | − | NE | − | + | − | Hands and feet paraesthesias cramps |
| III:24 | F | 42 | 12 | 4 | 3 | + | + | + | − | + | − | − | − | − | ↓ | − | − | NE | − | + | − | |
| IV:19 | M | 30 | 15 | 3 | 3 | + | + | + | − | + | − | + | − | + | N | − | − | P | + | + | − | Cramps |
| IV:25 | F | 20 | 10 | 3 | 3 | − | + | + | + | + | − | − | − | ± | N | − | ↑ | NE | + | + | + | |
| IV:6 | M | 30 | 12 | 3 | 0 | + | − | + | − | + | − | − | − | − | − | − | − | NE | − | + | − | |
| IV:9 | F | 33 | 7 | 1 | 0 | − | − | + | − | − | − | − | − | ± | N | − | ↓ | NE | − | − | − | |
| IV:12 | F | 29 | 1 | 0 | 0 | − | − | − | − | − | − | − | − | − | N | − | − | NE | − | − | − | Cramps |
| III:2 | F | 24 | 48 | 7 | 4 | NS | + | + | + | + | − | + | − | + | − | − | − | NS | + | + | − | |
| III:9 | F | NA | NA | 3 | NS | - | + | + | + | + | - | - | - | - | - | - | - | NS | NS | − | - | |
| III:5 | F | NA | NA | 3 | 0 | - | - | + | - | + | - | - | - | - | + | - | ↓ | NE | + | + | - | |
+, present; −, absent; ±, mild feet hypopallaesthesia; ↑↑, clonus; ↑, brisks; ↓, reduced; E, extension, F, flexion; FDS, Functional Disability Scale; LL, lower limbs; N, normal; NA, not available; NE, neutral; NS, not studied; UL, upper limbs.