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

Adrenoleukodystrophy.

H G Lenard

    Neuropediatrics
    |September 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    This review covers very long-chain fatty acid (VLCFA) storage disorders, suggesting a metabolic continuum for adrenoleukodystrophy and adrenomyeloneuropathy. Carrier identification and prenatal diagnosis are possible, but therapies remain unsuccessful.

    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

    Characteristic clinical features of idiopathic neuralgic amyotrophy in childhood.

    Neuropediatrics·2001
    Same author

    Love-bites on the forearm.

    Dermatology (Basel, Switzerland)·2001
    Same author

    Interdisciplinary treatment in pediatric patients with malignant CNS tumors.

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2001
    Same author

    Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.

    Human molecular genetics·2000
    Same author

    Relapsing polychondritis in childhood--case report and short review.

    Rheumatology international·2000
    Same author

    Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

    Human molecular genetics·2000
    Same journal

    Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

    Neuropediatrics·2026
    Same journal

    Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

    Neuropediatrics·2026
    Same journal

    Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

    Neuropediatrics·2026
    Same journal

    Gait Variability in Children with Periventricular Leukomalacia and Perinatal Stroke: A Comparison of Between-Subject Variability.

    Neuropediatrics·2026
    Same journal

    Why Patient Narratives Belong in Neonatal Research.

    Neuropediatrics·2026
    Same journal

    Successful Treatment of Epileptic Spasms with Perampanel in a Patient with Menkes Disease Caused by a Novel Splice Variant in Intron of ATP7A.

    Neuropediatrics·2026
    See all related articles

    Area of Science:

    • Biochemistry
    • Genetics
    • Neurology

    Background:

    • Disorders of very long-chain fatty acid (VLCFA) metabolism present with diverse clinical and neuropathological findings.
    • Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) exhibit distinct clinical trajectories but may represent a disease continuum.
    • A neonatal form of ALD suggests a separate genetic entity.

    Purpose of the Study:

    • To review the clinical, biochemical, radiological, and neurophysiological findings in VLCFA storage disorders.
    • To explore the relationship between ALD and AMN, and the potential for a single metabolic error.
    • To assess diagnostic capabilities and therapeutic outcomes for these conditions.

    Main Methods:

    • Review of clinical, biochemical, radiological, and neurophysiological data.

    Related Experiment Videos

  • Analysis of disease progression and neuropathological changes.
  • Evaluation of diagnostic methods for carrier identification and prenatal diagnosis.

    • Main Results:

    • Clinical symptomatology and neuropathological changes differ between ALD and AMN.
    • Observations within families suggest a spectrum of disease states linked to a single metabolic error with sex-linked recessive inheritance.
    • Heterozygote carrier identification and prenatal diagnosis are feasible through fibroblast VLCFA analysis.
    • Therapeutic interventions have not yet proven successful.
    • Neonatal ALD appears to be a distinct autosomal recessive disorder.

    Conclusions:

    • VLCFA storage disorders, including ALD and AMN, may represent a continuum of a single inherited metabolic defect.
    • Despite diagnostic advancements, effective treatments for these conditions are still lacking.
    • Neonatal ALD is genetically distinct, with autosomal recessive transmission.