Table 1. Clinical features in five affected members of the family.
| Ⅳ3 | Ⅳ4 | Ⅳ5 | Ⅳ7 | Ⅳ20 | |
|---|---|---|---|---|---|
| Sex | F | F | M | F | F |
| Age at exam (yr) | 44 | 42 | 44 | 42 | 47 |
| Age at onset (yr) | 39 | 41 | 42 | 40 | 45 |
| Disease duration(yrs) | 5 | 1.5 | 2 | 2 | 2 |
| Initial symptoms | tremor | tremor | rigidity | rigidity | bradyinesia |
| Parkinsonism | |||||
| Bradykinesia | + | + | + | ± | ++ |
| Rigidity | + | ± | ++ | ++ | ++ |
| Tremor | + | + | + | - | + |
| Postural instability | ++ | + | ++ | + | + |
| Response to dopaminergic therapy | ++ | ++ | - | - | + |
| Personality changes | ++ | ++ | + | + | ++ |
| Dementia | ++ | + | ND | - | ++ |
| Eye movement abnormalities | ++ | + | ++ | - | - |
| Blurred vision | ++ | + | ++ | + | - |
| Nystagmus | + | - | - | - | - |
| Dysarthria | + | ± | ++ | ± | ++ |
| Mutism | ++ | - | + | - | ++ |
| Drooling | + | ± | + | - | + |
| Dystonia | + | + | - | - | - |
| Seizures | - | - | - | - | - |
| Ankle edema | - | - | - | - | +++ |
| Urinary incontinence | - | - | - | - | + |
| Tendon reflexes | N | ↑lower limbs | ↑upper limbs | ↑upper limbs | N |
| Babinski’s sign | + | ± | - | ± | + |
| Frontal lobe release sign | + | + | + | + | + |
| Cerebellar signs | - | - | - | - | - |
| UPDRS motor (part Ⅲ) | 16 | 23 | ND | 13 | 54 |
| Webster Score | 7 | 10 | ND | 4 | 21 |
| MMSE | 29/30 | 30/30 | ND | 30/30 | 16/30 |
| WAIS-RC | Inferior to the bottom 5% of the population | Inferior to the bottom 20% of the population | ND | ND | ND |
Notes: Clinical signs are graded as follows: − = absent, ± = subtle, + = mild, ++ = moderate, +++ = severe, ↑ = increased, N = normal, D = defect, ND = not determined, UPDRS = Unified Parkinson’s Disease Rating Scale, WAIS-RC = Chinese Wechsler Intelligence Scale.