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

Sjögren-Larsson syndrome.

Neil Gordon1

  • 1neil-gordon@doctors.org.uk

Developmental Medicine and Child Neurology
|January 27, 2007
PubMed
Summary

Sjögren-Larsson syndrome, a genetic disorder, results from fatty aldehyde dehydrogenase deficiency. This impacts brain and skin, causing ichthyosis, spasticity, and learning issues.

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

Rapid detection of AAV8 binding antibodies in gene therapy candidates: development of a point-of-care approach.

Gene therapy·2025
Same author

Evaluating and implementing machine learning models for personalised mobile health app recommendations.

PloS one·2025
Same author

A 27-Year Experience With Day Surgery Transurethral Resection of the Prostate.

Cureus·2024
Same author

Closing Gaps in Lifestyle Adherence for Secondary Prevention of Coronary Heart Disease.

The American journal of cardiology·2021
Same author

Rare and unusual case of hepatic and disseminated tuberculosis in an immunocompetent patient.

BMJ case reports·2019
Same author

Type and Duration of Exercise in the SAMMPRIS Trial.

The neurologist·2018

Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Sjögren-Larsson syndrome is a rare, recessively inherited disorder.
  • It stems from a deficiency in the enzyme fatty aldehyde dehydrogenase (FALDH).
  • Key features include ichthyosis, spastic diplegia, and cognitive impairment.

Purpose of the Study:

  • To describe the clinical manifestations and diagnostic methods for Sjögren-Larsson syndrome.
  • To explore the underlying biochemical defect and its consequences.
  • To discuss diagnostic and prenatal testing options.

Main Methods:

  • Clinical observation and symptom documentation.
  • Neurophysiological tests: sensory evoked potentials, electromyography.
  • Biochemical assays: FALDH activity in fibroblasts, genetic mutation analysis (PCR).
  • Proton magnetic resonance spectroscopy and post-mortem examination.

Main Results:

  • Accumulation of lipids in brain regions observed post-mortem.
  • Diagnosis confirmed by measuring FALDH activity and identifying mutations.
  • Prenatal diagnosis is feasible using genetic analysis.
  • The disorder is linked to mutations on chromosome 17.

Conclusions:

  • FALDH deficiency disrupts fatty aldehyde oxidation, linking neurological and dermatological symptoms.
  • Accurate diagnosis relies on enzyme assays and genetic testing.
  • Multidisciplinary management is essential for affected children.

Related Experiment Videos