Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Cerebrotendinous xanthomatosis.

J L van Hellenberg Hubar1, E M Joosten, R A Wevers

  • 1Department of Neurology and Clinical Neurophysiology, University Hospital, Leiden, The Netherlands.

Clinical Neurology and Neurosurgery
|January 1, 1992
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.

Journal of inherited metabolic disease·2025
Same author

Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

JIMD reports·2024
Same author

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria.

Journal of inherited metabolic disease·2024
Same author

Cerebrotendinous xanthomatosis without neurological involvement.

Journal of internal medicine·2021
Same author

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.

Journal of inherited metabolic disease·2019
Same author

Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046].

Neuromuscular disorders : NMD·2017

Cerebrotendinous xanthomatosis (CTX), a rare metabolic disorder, may be underdiagnosed. This study highlights four cases lacking typical xanthomas, suggesting this symptom

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis.
  • It is characterized by progressive neurological dysfunction, premature cataracts, and xanthomas.

Observation:

  • Xanthomas are considered a hallmark of CTX, often leading to diagnosis.
  • However, this study presents four CTX cases where xanthomas were not initial presenting symptoms.

Findings:

  • The absence of xanthomas in some CTX patients suggests their diagnostic significance may be overestimated.
  • CTX might be more prevalent than currently recognized due to reliance on xanthoma presence.

Implications:

  • Rethinking diagnostic criteria for CTX is necessary to include patients without xanthomas.

Related Experiment Videos

  • Increased awareness and broader diagnostic approaches can improve early detection and management of CTX.