Table 2. Clinical features of SPG54 patients.
| Family (reference no.) | 18 | 28 | 38 | 48 | 512 | 612 | 713 | 814 | Current |
|---|---|---|---|---|---|---|---|---|---|
| DDHD2 mutation(s) | p.Thr602Ilefs*18/p.Glu686Glyfs*35 | p.Ile463Hisfs*6/p.Asp660His | p.Arg516* | p.Arg287* | p.Arg287* | p.Try661Cysfs*8 | p.Asp660His | p.Trp103Arg/p.Asp660His | p.Val220Phe |
| Clinical informations | |||||||||
| Consanguinity | − | − | + | + | + | − | − | − | + |
| Affected member(s) | two | two | five | one | two | two | Two | Two | onea |
| Age at examination | 3 ~ 5 | 7 ~ 10 | 8 ~ 21 | 30 | 19 ~ 25 | 2 ~ 9 | 10 ~ 23 | 39–40 | 69 |
| Age of onset (y.o.) | ~2 | ~2 | ~2 | ~2 | ~6 | 0 | 0 | 4–5 | 45 |
| Mental retardation | + | + | + | + | + | + | + | + | − |
| Optic-nerve hypoplasia | + | − | NA | + | NA | NA | − | NA | − |
| Strabismus | − | + | + | + | NA | NA | + | NA | − |
| Dysarthria | − | + | + | + | NA | NA | + | NA | + |
| Spasticity (upper/lower extremities) | −/+ | +/+ | ±/+ | −/+ | −/+ | −/+ | +/+ | NA | −/+ |
| muscle weakness | − | + | + | + | NA | NA | + | + | + |
| Truncal ataxia | NA | NA | NA | NA | NA | NA | + | NA | + |
| Limb ataxia | NA | NA | NA | NA | NA | NA | + | NA | + |
| Extrapyramidal signs | − | ± | − | + | − | − | − | NA | − |
| Involuntary movements | NA | NA | NA | NA | NA | NA | − | NA | postural tremor |
| Sensory involvements | NA | NA | NA | NA | vibratory sense | unknown | NA for vibratory sense | + | vibratory sense |
| Hyperreflexia | + | + | + | + | + | + | + | + | + |
| Extensor plantar responses | NA | NA | NA | NA | + | + | + | + | + |
| Peripheral neuropathy | NA | NA | NA | NA | − | − | mild decrease of MCV | + | mild decrease of SCV |
| Bladder disturbance | + | + | − | − | − | unknown | − | NA | + |