CTX is associated with mutations in the CYP27A1 gene, located on chromosome 2q33-qter. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 2 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Cerebrotendineous xanthomatosis
Grinker myelinopathy
White dot syndromes
Neuromyelitis optica spectrum disorder
Lipohyalinosis
Multiple evanescent white dot syndrome
Canavan disease
Camel spongiform encephalopathy