P039: Neuropsychiatric symptom burden of cerebrotendinous xanthomatosis, the importance of diagnosing early, and the impact of CDCA treatment: A US-based survey

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive metabolic disorder of bile acid synthesis resulting in a pathological storage of lipids throughout body tissues. This leads to early-onset chronic diarrhea, juvenile-onset bilateral cataracts, tendon xanthomas, and progressive neurological deterioration. These debilitating symptoms underscore the need to diagnose CTX early in order to limit serious neuropsychiatric and physical disability. There is a paucity of data in the literature focused on the burden and severity of neurologic and psychiatric symptoms associated with CTX.