Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX)

We studied three siblings and one unrelated patient with cerebrotendinous xanthomatosis (CTX). Of two unrelated patients, we examined biopsies of sural nerve, soleus muscle, and achilles tendon. We also performed neurophysiologic investigations. Another patient died, and a postmortem examination of both brain and spinal cord was made. It was concluded that both the central and the peripheral nervous system were involved in CTX, but the peripheral system only to a slight degree, and that the pathology was predominantly neuroaxonal rather than demyelinating in character.