What are the neurologic signs and symptoms of cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Neurologic symptoms tend to manifest in the third decade of life; however, children and young adults may have below-average intelligence, occasionally severe mental retardation, with worsening and deterioration in the third decade of life. In one study, neurologic symptoms were broken down into extrapyramidal (81%), low intelligence (66%), and cerebellar signs (56%). [23] Polyneuropathy was present in 31% of patients, and only 16% of patients had seizures, although seizures can be the presenting symptom. [33] The latter is a lower estimate in relation to other reports. Other symptoms include the following:

  • Fronto-temporal dementia [11, 30]

  • Spasticity (both periventricular white matter and isolated spinal cord disease)

  • Cerebellar symptoms and ataxia (with other neurologic signs or isolated) [34]

  • Extrapyramidal symptoms, including dystonia and oromandibular dyskinesia [35]

  • Early-onset Parkinson disease [36]

  • Seizures

  • Peripheral neuropathy

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