Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy

Neuropathol Appl Neurobiol. 2014 Apr;40(3):345-50. doi: 10.1111/nan.12058.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Age Factors
  • Cholestanetriol 26-Monooxygenase / genetics*
  • Humans
  • Limbic System* / pathology
  • Male
  • Middle Aged
  • Mutation
  • Tauopathies / diagnosis*
  • Tauopathies / genetics
  • Xanthomatosis, Cerebrotendinous / diagnosis*
  • Xanthomatosis, Cerebrotendinous / genetics

Substances

  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase