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Article

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

European journal of neurology - 1 Oct 2011

Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo J R, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido M J

Abstract excerpt

BACKGROUND AND PURPOSE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene resulting in sterol-27-hydroxylase deficiency. Current information about CTX is based mainly on case reports, with only few large series reported. Although p...

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Identifiers

PMID: 21645175
DOI: 10.1111/j.1468-1331.2011.03439.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21645175-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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