Psychiatric manifestations in cerebrotendinous xanthomatosis

@inproceedings{Fraidakis2013PsychiatricMI,
  title={Psychiatric manifestations in cerebrotendinous xanthomatosis},
  author={Matthew J Fraidakis},
  booktitle={Translational Psychiatry},
  year={2013}
}
Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must be started as early as possible to prevent permanent disability. Psychiatric manifestations are rare and non-specific, and often lead to significant diagnostic and treatment delay. Therefore, better recognition of the gamut of… CONTINUE READING
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