What is the global prevalence of cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Cases have been reported in China, Canada, Belgium, Brazil, Saudi Arabia, India, Germany, Taiwan, France, Switzerland, South Africa, Australia, Israel, and Argentina; a large representation has been reported among Spanish [18] and Scandinavian populations, as well as in Italy and Japan. A nationwide survey in Japan revealed an average 16.5-year diagnostic delay, providing further evidence that cerebrotendinous xanthomatosis may be underdiagnosed. [19] A founder effect and high rate of consanguinity appear to be responsible for a high prevalence among the Druze population. [17, 20]

Mutation analysis internationally reveals the following high frequency alleles: T339M in Dutch patients, R474(Q-W) in Japanese patients, and A216P in Italian patients. [10] A genetic study allows estimation of frequencies across many populations, but confirmation is needed. [21]

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