Work

Cerebrotendinous Xanthomatosis

Year: 2026

Type: article

Abstract: Objectives: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder that may be underdiagnosed in Latin America (LatAm). Methods: We describe 6 Mexican individuals with CTX from 2 unrelated families and review published LatAm cases. MEDLINE was searched (1966-October 2025) for CTX cases reported in LatAm in English, Portuguese, or Spanish. Twenty studies including 28 patients from 23 families were identified, and international CTX cohorts were selected for comparison. Results: variants (c.562C>T and c.1016C>T), whereas those from the other family harbored homozygous c.944_948del. Parkinsonism and dystonia were prominent among Mexican patients. Most LatAm cases were male, with childhood onset and a mean diagnostic age of 41.7 ± 16.17 years. Xanthomas, cataracts, diarrhea, and movement disorders were frequent. Elevated cholestanol levels were detected in 14 of 34 individuals. Genetic testing was performed in 24 of 34 individuals; all tested individuals had pathogenic CYP27A1 variants. Dentate nuclei abnormalities were the main brain MRI findings. Chenodeoxycholic acid was used in 13 of 34 cases. Discussion: Besides classic CTX features, brownish dental enamel, hyperlordosis, and urinary incontinence were identified among some LatAm patients. Symptom onset was earlier in LatAm than in other regions. Diarrhea and neurologic symptoms with early-onset cataracts or xanthomas should prompt genetic testing for CTX.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000200443