Which studies may be helpful in the workup of cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Other studies include electrophysiologic testing, prenatal testing (only performed if a family member is affected), and population-wide newborn screening (not yet implemented). [69, 70] Electrophysiological testing may reveal motor or sensorimotor peripheral neuropathy (demyelinating, axonal, or mixed). Somatosensory evoked potentials (SSEPs) are commonly affected. Delayed brainstem auditory evoked potentials are common, and visual evoked potentials are often abnormal. [71]

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