- Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. Wakamatsu, N., Hayashi, M., Kawai, H., Kondo, H., Gotoda, Y., Nishida, Y., Kondo, R., Tsuji, S., Matsumoto, T. J. Neurol. Neurosurg. Psychiatr. (1999)