[Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis].

Background: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease.

Aim: To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index.