Table 6.

Treatment of Manifestations in Individuals with Cerebrotendinous Xanthomatosis

Manifestation/ConcernTreatmentConsiderations/Other
↑ cholestanol assoc w/neurologic issues & osteoporosis
  • Long-term treatment w/CDCA 1: 750 mg/day in adults; 10-20 mg/kg/day in children
  • Should be started early as effect of therapy depends largely on extent of irreversible structural damage to axons.
  • Normalizes plasma & CSF concentration of cholestanol by suppressing cholestanol biosynthesis.
  • Improves neurophysiologic findings (normalization of NCVs & stabilization; slow & continuous improvement of MEPs & SEPs).
  • Also improves osteoporosis.
Inhibitors of HMG-CoA reductase (statins such as simvastatin & pravastatin) can be used as alternative treatment alone or in combination w/CDCA.Caution required when using these drugs: may induce muscle damage or even rhabdomyolysis
  • Cholic acid treatment has been used in a few persons 2 & is assoc w/↓ of cholestanol level & improvement of neurologic symptoms.
  • Such therapy may be useful in those who experience side effects w/CDCA treatments.
Cataracts Surgical cataract extractionTypically required in at least 1 eye by age 50 yrs
Epilepsy Symptomatic treatments
Spasticity
Parkinsonism Persons w/CTX & parkinsonism are poorly responsive to levodopa.

CDCA = chenodeoxycholic acid; CSF = cerebrospinal fluid; MEP = motor evoked potential; NCV = nerve conduction velocity, SEP = sensory evoked potential

1.

Verrips et al [2020] highlighted the efficacy and safety of therapeutic treatment with CDCA through two retrospective studies.

2.

From: Cerebrotendinous Xanthomatosis

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