Table 2 Clinical characteristics of probands with KIF1A variants
From: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Patient | P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 | P10 | P11 | P12 | P13 | P14 | P15 | P16 | P17 | P18 | P19 | P20 | P21 | P22 | P23 | P24 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family history | + | + | + | + | − | − | + | + | + | − | + | − | − | + | + | + | + | ? | − | + | + | + | − | − |
Age at onset (y) | <1 | 9 | 13 | <10 | 21 | >18 | 50 | <10 | 57 | <10 | <10 | <1 | 1 | <10 | ~20 | ~30 | 1 | 46 | 10 | <10 | 2 | 2 | <5 | 1 |
Age (years) | 56 | 14 | 17 | 53 | 38 | 54 | 64 | 50 | 62 | 49 | 18 | 4 | 3 | 54 | 28 | 60 | 19 | 56 | 51 | 66 | 12 | 22 | 20 | 6, 5 |
Cognitiona | N | N | IQ80 | N | N | N | N | IQ77 | N | N | N | N | N | N | N | N | N | N | N | N | N | N | N | IQ57 |
Walking aid | − | − | − | + | − | + | + | + | − | − | − | + | − | − | − | − | − | − | − | − | − | − | − | − |
LL spasticity | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
LL weakness | + | + | + | + | + | − | − | + | + | − | − | + | + | − | − | + | − | − | − | + | − | + | + | |
LL deep sensory disturbances | + | − | + | − | + | − | + | + | − | − | − | + | − | + | − | + | − | − | − | − | − | ? | ? | |
PTR | ↑ | ? | ↑ | ↑ | ↑↑ | ↑ | ↑↑ | ↑↑ | ↑↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ |
ATR | ↑ | ↑ | ↑ | ↓ | ↑ | ↑ | ↑↑ | ↑↑ | ↑↑ | ↑ | ↑ | ↓ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ | ↑ |
Extensor plantar response | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | − |
UL spasticity | − | − | − | − | − | − | − | − | − | − | − | + | − | − | − | − | + | − | − | − | − | − | − | − |
UL weakness | − | + | − | − | − | − | − | − | − | − | − | − | − | − | − | − | ? | − | − | − | − | − | − | − |
UL sensory disturbances | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | ? | − | − | − | − | − | − | ? |
UL DTR | ↑ | N | N | ↓ | N | N | ? | N | N | ↑ | ↑ | N | N | N | ↑ | ↑ | ↑ | ↑ | ↑ | N | N | N | N | N |
Urinary sphincter problems | + | + | + | − | + | − | + | + | − | − | + | − | − | + | − | − | − | − | − | − | − | − | − | + |
Brain and or spine MRI | ? | N | ? | ? | N | N | ? | ? | N | ? | N | TCC | TCC | ? | N | N | N | N | N | ? | ? | ? | N | N |
