Table 1 Clinical characteristics in a cohort of thirteen patients with CTX
From: Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Demographic | |||
- Gender | Female: 9 | Male: 4 | |
- Familial genetics | Consanguinity: 4 | Affected sibs: 6 | |
Age of onset [median; mean ± SD; range] (years) | |||
- Diarrhea | 10/13, neonatal | ||
- School difficulties | 11/13 [10; 9.9 ± 3.2; 5–15] | ||
- Cataract (age of surgery) | 11/13 [13; 15.4 ± 13.8; 5–54] | ||
- Psychiatric symptoms | 6/13 [15.5; 21.2 ± 11.7; 10–40] | ||
- Walking difficulties | 11/13 [20; 21.4 ± 10.3; 12–50] | ||
Neurological examination | |||
Age at examination [median; mean ± SD; range] (years) | 30; 33 ± 13.8 (18–60) | ||
- Dysmetria | Yes: 7/13 | ||
- Tandem | Unable: 5/13 | Abnormal: 7/13 | Normal: 1/13 |
- LL spasticity | Yes: 6/13 | ||
- UL spasticity | Yes: 0/13 | ||
- LL reflexes (knee) | Increased: 6/13 | Absent: 3/13 | Normal: 4/13 |
- LL reflexes (ankle) | Increased: 5/13 | Absent: 3/13 | Normal: 5/13 |
- UL reflexes | Increased: 9/13 | Normal: 4/13 | |
- Plantar reflexes | Upgoing: 7/13 | Flexor/Indifferent: 6/13 | |
- Romberg | Positive: 3/12 | Negative: 9/12 | |
- LL proprioception | Decreased: 10/11 | Normal: 1/11 | |
- UL proprioception | Normal: 11/11 | ||
Eye movements | |||
- Pursuit | Saccadic: 8/13 | Normal: 5/13 | |
- Saccades | Dysmetric: 7/13 | Normal: 6/13 | |
Cognitive dysfunction | 13/13 | ||
- Delayed cognition | 10/13 | ||
- Dysexecutive/Decline | 12/13 | ||
Paroxysmal manifestations | |||
- Myoclonic dystonia | 7/13 | ||
- Epilepsy | 1/13 | ||
Osteoporosis | 4/13 | ||
Tendon Xanthoma | 3/13 | ||
Peripheral neuropathy | 10/13 - Axonal (4/10), Demyelinating (5/10), Mixed (1/10) | ||
Brain MRI/MRS | |||
- Global atrophy | 3/13 | ||
- Periventricular T2 hyperintensities | 10/13 | ||
- Increased choline peak (MRS) | 13/13 | ||
- Dentate nuclei T2 hyperintensities | 12/13 | ||
- Cerebellar atrophy | 7/13 | ||