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Article

Late-onset spinal form xanthomatosis without brain lesion: a case report.

BMC neurology - 9 Feb 2016

Yanagihashi Masaru, Kano Osamu, Terashima Tomoya, Kawase Yuji, Hanashiro Sayori, Sawada Masahiro, Ishikawa Yuichi, Shiraga Nobuyuki, Ikeda Ken, Iwasaki Yasuo

Abstract excerpt

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. Patients with typical CTX show neurological dysfunction including bilateral cataracts, paresis, cerebral ataxia, dementia, and psychiatric disorders, and magnetic resonance imaging (MRI) has revealed symmetrical lesions in the cerebellar white matter. CASE...

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Identifiers

PMID: 26861945
DOI: 10.1186/s12883-016-0542-2
PMCID: PMC4748474

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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