Other Names for this Disease
- Cerebral cholesterinosis
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The symptoms associated cerebrotendinous xanthomatosis are listed below, including the typical age when each symptom appears.
- Chronic diarrhea (infancy)
- Cataracts (early childhood)
- Mental impairment (infancy or at puberty)
- Xanthomas (adolescents to early adulthood)
- Dementia with slow deterioration in intellectual abilities (early adulthood)
- Spasticity (early adulthood)
- Cerebellar signs such as intention tremor, difficulty with fast hand movements, nystagmus, truncal ataxia, and rhomberg's sign) (early adulthood)
- Behavioral changes (early adulthood)
- Hallucinations (early adulthood)
- Agitation (early adulthood)
- Aggression (early adulthood)
- Depression (early adulthood)
- Suicide attempt (early adulthood)
- Other symptoms may include dystonia, atypical parkinsonism, seizures, and peripheral neuropathy.
Last updated: 9/12/2013
- Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. GeneReviews. August 1, 2013; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctx. Accessed 9/12/2013.