Table 1 Summary of clinical characteristics in 4 patients with CTX
Patients | Sex | Age at symptom onset | Age at diagnosis | Infantile onset Diarrhoea | Intellectual Disability | Tendon Xanthomata | Early onset cataract |
|---|---|---|---|---|---|---|---|
Patient 1 | M | 8 | 42 | No | Yes | Yes | Yes |
Patient 2 | F | 8 | 37 | Yes | Yes | No | Yes |
Patient 3 | M | 15 | 37 | No | Yes | No | No |
Patient 4 | M | 25 | 41 | Yes | No | No | No |
Patients | Pyramidal signs | Extrapyramidal signs | Epilepsy | Dementia | Neuropathy | Osteoporosis | |
Patient 1 | Yes | No | Yes | Yes | Yes | No | |
Patient 2 | Yes | No | No | No | No | Yes | |
Patient 3 | Yes | Yes | No | No | Yes | No | |
Patient 4 | Yes | No | No | No | Yes | No | |