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

Neonatal adrenoleukodystrophy.

P Aubourg, J Scotto, F Rocchiccioli

    Journal of Neurology, Neurosurgery, and Psychiatry
    |January 1, 1986
    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

    Mood symptoms and suicidality across the autism spectrum.

    Comprehensive psychiatry·2019
    Same author

    Efficient CNS targeting in adult mice by intrathecal infusion of single-stranded AAV9-GFP for gene therapy of neurological disorders.

    Gene therapy·2017
    Same author

    Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype.

    European journal of neurology·2017
    Same author

    Toward a better understanding of brain lesions during metachromatic leukodystrophy evolution.

    AJNR. American journal of neuroradiology·2012
    Same author

    Heterotopia associated with hippocampal sclerosis: an under-recognized cause of early onset epilepsy in children operated on for temporal lobe epilepsy.

    Neuropediatrics·2010
    Same author

    Invariant NKT cells in adrenoleukodystrophy patients and mice.

    Journal of neuroimmunology·2010
    Same journal

    Diagnostic accuracy of a two-cut-off approach using the FAQ/MMSE ratio and FAQ for clinical preselection of patients for anti-amyloid therapy.

    Journal of neurology, neurosurgery, and psychiatry·2026
    Same journal

    Cancer risk and mortality in patients with multiple sclerosis in Finland: a retrospective population-based cohort study.

    Journal of neurology, neurosurgery, and psychiatry·2026
    Same journal

    Visuospatial working memory in Huntington's disease: behavioural and structural brain correlates.

    Journal of neurology, neurosurgery, and psychiatry·2026
    Same journal

    Characteristics and outcomes in electric scooter-related traumatic brain injuries in Helsinki.

    Journal of neurology, neurosurgery, and psychiatry·2026
    Same journal

    Chronological ageing and ovarian reserve in MS: insights from anti-Müllerian hormone and disability progression.

    Journal of neurology, neurosurgery, and psychiatry·2026
    Same journal

    Durable fluoropolymer drug-eluting stent versus bare-metal stent for the prevention of intracranial in-stent restenosis.

    Journal of neurology, neurosurgery, and psychiatry·2026
    See all related articles

    Neonatal adrenoleukodystrophy presents with distinct facial features, hypotonia, and organomegaly. This study highlights the peroxisomal enzyme deficiency underlying this severe neurological disorder.

    Area of Science:

    • Biochemistry
    • Neurology
    • Genetics

    Background:

    • Neonatal adrenoleukodystrophy (NALD) is a severe peroxisomal disorder.
    • It is characterized by a spectrum of clinical manifestations and biochemical abnormalities.

    Purpose of the Study:

    • To describe the clinical, histopathological, and biochemical findings in nine NALD cases.
    • To compare these findings with other NALD and neonatal peroxisomal disorders.

    Main Methods:

    • Clinical case series description.
    • Histopathological examination of liver and brain tissue.
    • Biochemical analysis of plasma and bile for very long chain fatty acids, phytanic acid, and trihydroxycoprostanic acid.

    Main Results:

    Related Experiment Videos

  • All patients exhibited abnormal facial features, hypotonia, hepatomegaly, and retinitis pigmentosa.
  • Progressive neurological decline was observed, with demyelination evident on CT scans.
  • Biochemical analyses confirmed deficiencies in multiple peroxisomal enzymes, including elevated very long chain fatty acids.

    • Conclusions:

    • NALD is a severe peroxisomal biogenesis disorder with a distinct clinical and biochemical profile.
    • Early diagnosis through biochemical markers is crucial for understanding NALD and related peroxisomal disorders.