Cerebrotendinous Xanthomatosis: Clinical Features of Affected Individuals From Latin America.
7 affiliations
- 1Movement Disorders Clinic, Instituto Nacional de Neurología y Neurocirugía "Manuel Velasco Suárez", Mexico City, Mexico.
- 2Parkinson's Disease and Movement Disorders Center, Centro Neurologico, Hospital ABC, Mexico City, Mexico.
- 3Movement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.
- 4Department of Genetics, Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Mexico.
- 5Department of Neurology, Hospital Faro Del Mayab, Mérida Yucatán, Mexico.
- 6Movement Disorders and Neurodegenerative Diseases Unit (UMANO), Guadalajara, Mexico; and.
- 7Rare Diseases Program, Instituto de Seguridad Social al Servicio de los Trabajadores Del Estado (ISSSTE), Mexico City, Mexico.
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
Individuals from one Mexican family carried compound heterozygous CYP27A1 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.
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BibTeX
@article{martinezhernandez2026cerebrotendinous,
title = {{Cerebrotendinous Xanthomatosis: Clinical Features of Affected Individuals From Latin America.}},
author = {Héctor Rubén Martínez-Hernández and Leonel Villa-Villegas and Carlos Eduardo Piña-Avilés and Roberto Leal-Ortega and Michel Sáenz-Farret and Alejandra Camacho-Molina and Carlos Zúñiga-Ramírez},
journal = {Neurology. Genetics},
year = {2026},
month = oct,
doi = {10.1212/nxg.0000000000200443},
url = {https://europepmc.org/article/MED/42924165},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Cerebrotendinous Xanthomatosis: Clinical Features of Affected Individuals From Latin America.
AU - Héctor Rubén Martínez-Hernández
AU - Leonel Villa-Villegas
AU - Carlos Eduardo Piña-Avilés
AU - Roberto Leal-Ortega
AU - Michel Sáenz-Farret
AU - Alejandra Camacho-Molina
AU - Carlos Zúñiga-Ramírez
PY - 2026
DA - 2026/10/09
JO - Neurology. Genetics
DO - 10.1212/nxg.0000000000200443
UR - https://europepmc.org/article/MED/42924165
AB - 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 Individuals from one Mexican family carried compound heterozygous CYP27A1 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.
SN - 2376-7839
ER -