Elevated levels of serum cholestanol are diagnostic of CTX. Alternatively analysis of 27-hydroxycholesterol and 7 alpha hydroxycholesterol can be used. Genetic testing of the CYP27A1 gene is confirmatory and is increasingly being used as a first line test as part of symptom specific gene panels (genetic eye disease, ataxia, dementia).
Cerebrotendineous xanthomatosis
Grinker myelinopathy
White dot syndromes
Neuromyelitis optica spectrum disorder
Lipohyalinosis
Multiple evanescent white dot syndrome
Canavan disease
Camel spongiform encephalopathy