Table 1.
Clinical features of patients with the ERLIN2 mutation.
| II-2 | III-1 | III-2 | III-5 | IV-2 | |
|---|---|---|---|---|---|
| Sex | F | M | F | M | M |
| Age at examination, y | 77 | 53 | 51 | 45 | 23 |
| Age at onset, y | 38 | 15 | 37 | 24 | 22 |
| Disease duration, y | 39 | 38 | 14 | 21 | 1 |
| Symptoms at onset | Awkward gait | Gait disturbance | Awkward gait | Gait disturbance | Awkward gait |
| Age when wheelchair-bound | 63 | 46 | − | − | − |
| Muscle weakness | |||||
| Upper limb | 5 | 5 | 5 | 5 | 5 |
| Lower limb | 2–3 | 3–4 | 4+ | 4+ | 5 |
| Muscle spasticity | |||||
| Upper limb | − | − | − | − | − |
| Lower limb | +++ | ++ | ++ | ++ | + |
| Deep tendon reflex | |||||
| Upper limb | 1+ | 2+ | 2+ | 2+ | 2+ |
| Lower limb | 4+ | 4+ | 3+ | 4+ | 3+ |
| Babinski sign | Bilateral | Bilateral | −/− | −/− | −/− |
| Ankle clonus | −/− | +/+ | +/+ | +/+ | +/+ |
| Bladder dysfunction | − | − | − | − | − |
| Sensory abnormality | + | + | + | − | − |
| Paresthesia | − | − | + | − | − |
| Foot deformity | + | − | − | − | − |
| Mental retardation | − | − | − | − | − |
| Seizure | − | − | − | − | − |
| Scoliosis | + | − | − | - | − |
−, absent; +, mild; ++, moderate; +++, severe.