Clinical and laboratory manifestations of three patients with CTX with parkinsonism

PatientsFamily T              Family S
CTX-1CTX-2CTX-3
SexFFF
Age (y)464333
Age at onset (y)1.51.59
Consanguinity++
Cataracts++++++
Xanthoma+++++
Neurological dysfunctions
Low intelligence++++++++
 Convulsion++++++
 Pyramidal sign++++++++
 Cerebellar sign++++++++
 Peripheral neuropathy+
 Tremor+++
 Akinesia+++++
 Rigidity+++
Serum cholestanol (μg/ml)* 47.111.831.4
CSF HVA (ng/ml) 17.413.616.5
Brain MRISevere brain atrophy, abnormal intensities in the pyramidal tract and midbrainCerebellar atrophy
  • Scoring system: (+++) to (−) = severe to absent; *normal concentration: 2.4±0.7 μg/ml; normal concentration: 33.2±5.1ng/ml.