Clinical and laboratory manifestations of three patients with CTX with parkinsonism
| Patients | Family T | Family S | ||
|---|---|---|---|---|
| CTX-1 | CTX-2 | CTX-3 | ||
| Sex | F | F | F | |
| Age (y) | 46 | 43 | 33 | |
| Age at onset (y) | 1.5 | 1.5 | 9 | |
| Consanguinity | + | + | − | |
| Cataracts | ++ | ++ | ++ | |
| Xanthoma | ++ | ++ | + | |
| Neurological dysfunctions | ||||
| Low intelligence | +++ | +++ | ++ | |
| Convulsion | ++ | ++ | ++ | |
| Pyramidal sign | +++ | +++ | ++ | |
| Cerebellar sign | +++ | +++ | ++ | |
| Peripheral neuropathy | + | − | − | |
| Tremor | ++ | − | + | |
| Akinesia | ++ | ++ | + | |
| Rigidity | + | ++ | − | |
| Serum cholestanol (μg/ml)* | 47.1 | 11.8 | 31.4 | |
| CSF HVA (ng/ml)† | 17.4 | 13.6 | 16.5 | |
| Brain MRI | Severe brain atrophy, abnormal intensities in the pyramidal tract and midbrain | Cerebellar atrophy | ||
Scoring system: (+++) to (−) = severe to absent; *normal concentration: 2.4±0.7 μg/ml; †normal concentration: 33.2±5.1ng/ml.