Cerebrotendinous xanthomatosis (CTX): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Cerebrotendinous xanthomatosis (CTX): clinical features. This is caused by mutations in the CYP27A1 gene. Fully referenced neurology checklist.
Genetics and pathology
- This is caused by mutations in the CYP27A1 gene
- This encodes sterol 27-hydroxylase
- The mutations result in cholestanol accumulation in tissues
Main features
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Cranial features
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Spinal features
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Peripheral features
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Psychiatric features
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Systemic features
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Differential diagnosis
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References
- Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch Neurol 2002; 59:527-529.
- Rafiq M, Sharrack N, Shaw PJ, Hadjivassiliou M. A neurological rarity not to be missed: cerebrotendinous xanthomatosis. Pract Neurol 2011; 11:296-300.
- Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A. Movement disorders in cerebrotendinous xanthomatosis. Parkinsonism Relat Disord 2019; 58:12-16.
- Pedroso JL, Pinto WB, Souza PV, et al. Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis. Epilepsy Behav 2012; 24:380-381.
- Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PE. Cerebrotendinous xanthomatosis presenting with infantile spasms and intellectual disability. JIMD Rep 2016 (Epub ahead of print).
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