Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Mar 2017

Zádori Dénes, Szpisjak László, Madar László, Varga Viktória Evelin, Csányi Bernadett, Bencsik Krisztina, Balogh István, Harangi Mariann, Kereszty Éva, Vécsei László, Klivényi Péter

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare, genetically determined error of metabolism. The characteristic clinical symptoms are diarrhea, juvenile cataracts, tendon xanthomas and neuropsychiatric alterations. The aim of this study is to present a pair of identical adult twins with considerable differences in the severity of phenotype. With regards to neuropsychiatric symptoms, the predominant features were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Magnetic Resonance Imaging
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Twins, Monozygotic

Share to Xanthomatosis, Cerebrotendinous

Source

Identifiers

PMID: 27888347
DOI: 10.1007/s10072-016-2776-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.PMID 27888347Read ↗

Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.Semantic proximity Read ↗

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.Semantic proximity Read ↗

[Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment].Semantic proximity Read ↗

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene.Semantic proximity Read ↗

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.Semantic proximity Read ↗

A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels.Semantic proximity Read ↗

Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.Semantic proximity Read ↗

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.