CTX is a rare and underdiagnosed autosomal recessive disorder

CTX is rare and underdiagnosed^1,2

The estimated prevalence of CTX in the general population ranges from 1 in 44,000 to in 3,400,000.^3,4

CTX is widely recognized to be a rare genetic disorder in the general population; however, it occurs at a higher frequency in certain genetically isolated populations. These include Sephardic Jews (especially those of North African origin) and the Druze community.^5-8 In people of Moroccan Jewish ancestry, the frequency of genetic variants associated with CTX has been estimated at 1/108, with a disease frequency of approximately 6/70,000.⁶

CTX is inherited in an autosomal recessive pattern⁹

CTX is caused by mutations in the CYP27A1 gene on chromosome 2q, which codes for the mitochondrial enzyme 27-hydroxylase.^2,10,11 Forty-nine separate mutations in the CYP27A1 gene have been identified in families affected by CTX.² No genotype-phenotype correlation has been observed in CTX; manifestations vary even in patients with the same mutations.^7,9,12

CYP27A1 gene mutations^9,13