{
  "abstract": "Objectives\n\nCerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder that may be underdiagnosed in Latin America (LatAm).Methods\n\nWe 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\n\nIndividuals 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\n\nBesides 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.",
  "abstract_shown": true,
  "affiliations": [
    "Movement Disorders Clinic, Instituto Nacional de Neurología y Neurocirugía \"Manuel Velasco Suárez\", Mexico City, Mexico.",
    "Parkinson's Disease and Movement Disorders Center, Centro Neurologico, Hospital ABC, Mexico City, Mexico.",
    "Movement Disorders and Neurodegenerative Diseases Unit, Hospital Civil de Guadalajara \"Fray Antonio Alcalde\", Guadalajara, Mexico.",
    "Department of Genetics, Hospital Civil de Guadalajara \"Fray Antonio Alcalde\", Guadalajara, Mexico.",
    "Department of Neurology, Hospital Faro Del Mayab, Mérida Yucatán, Mexico.",
    "Movement Disorders and Neurodegenerative Diseases Unit (UMANO), Guadalajara, Mexico; and.",
    "Rare Diseases Program, Instituto de Seguridad Social al Servicio de los Trabajadores Del Estado (ISSSTE), Mexico City, Mexico."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Héctor Rubén Martínez-Hernández"
    },
    {
      "affs": [
        2
      ],
      "name": "Leonel Villa-Villegas",
      "orcid": "0009-0008-3096-8131"
    },
    {
      "affs": [
        3
      ],
      "name": "Carlos Eduardo Piña-Avilés"
    },
    {
      "affs": [
        4
      ],
      "name": "Roberto Leal-Ortega",
      "orcid": "0000-0001-5582-8962"
    },
    {
      "affs": [
        5
      ],
      "name": "Michel Sáenz-Farret"
    },
    {
      "affs": [
        6
      ],
      "name": "Alejandra Camacho-Molina"
    },
    {
      "affs": [
        2,
        5
      ],
      "name": "Carlos Zúñiga-Ramírez",
      "orcid": "0000-0003-4319-5875"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/eqyagae3rjgfy.bib",
  "cited_by": 0,
  "doi": "10.1212/nxg.0000000000200443",
  "fulltext_url": "https://europepmc.org/articles/PMC13689552",
  "id": "eqyagae3rjgfy",
  "issns": [
    "2376-7839"
  ],
  "landing_url": "https://europepmc.org/article/MED/42924165",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1308|Metabolism and Genetic Disorders"
    ]
  ],
  "openalex": "W7221085537",
  "pdf_url": "https://europepmc.org/articles/PMC13689552?pdf=render",
  "pmcid": "PMC13689552",
  "pmid": "42924165",
  "published": "2026-10-09",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/eqyagae3rjgfy.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:33Z",
      "native_id": "MED:42924165",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42924165"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:1308|Metabolism and Genetic Disorders",
      "subfield": "general"
    }
  ],
  "title": "Cerebrotendinous Xanthomatosis: Clinical Features of Affected Individuals From Latin America.",
  "title_text": "Cerebrotendinous Xanthomatosis: Clinical Features of Affected Individuals From Latin America.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:20:33Z",
  "url": "https://research.draconitic.com/paper/eqyagae3rjgfy",
  "venue": "Neurology. Genetics",
  "versions": []
}