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

Krabbe's disease. A light and electron microscopic study.

S S Schochet, W F McCormick, G F Powell

    Acta Neuropathologica
    |October 15, 1976
    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

    Acute periaqueductal syndrome associated with the G11778A mitochondrial DNA mutation.

    Neurology·2001
    Same author

    Intradural convexity chondroma: a case report and review of diagnostic features.

    The West Virginia medical journal·2001
    Same author

    Resident curriculum guidelines for neurosurgery. Congress of Neurological Surgeons Education Committee.

    Clinical neurosurgery·2001
    Same author

    A silica-based mitochondrial DNA extraction method applied to forensic hair shafts and teeth.

    Journal of forensic sciences·2001
    Same author

    The outer neomembrane of chronic subdural hematoma.

    Neurosurgery clinics of North America·2000
    Same author

    The rhomboid fossa of the clavicle as a sex and age estimator.

    Journal of forensic sciences·2000
    Same journal

    Mutation-specific neuropathologic signatures in MAPT-associated frontotemporal lobar degeneration.

    Acta neuropathologica·2026
    Same journal

    Molecular changes during AT/RT progression associated with epithelial-mesenchymal transition and extracellular matrix changes.

    Acta neuropathologica·2026
    Same journal

    Prion-like transmission and propagation of human β-amyloid to the bank vole rodent model.

    Acta neuropathologica·2026
    Same journal

    Inhibition of tRNA fragments dysregulated in human mTLE exacerbates pathology and seizure activity.

    Acta neuropathologica·2026
    Same journal

    VMA21 deficiency leads to autophagic dysregulation and altered vesicle trafficking in X-linked myopathy with excessive autophagy.

    Acta neuropathologica·2026
    Same journal

    Donor-specific pathological features associate with genetic background, lesion type distribution, and clinical heterogeneity in multiple sclerosis.

    Acta neuropathologica·2026
    See all related articles

    Ultrastructural analysis of Krabbe

    Area of Science:

    • Neuropathology
    • Cell Biology
    • Lysosomal Storage Diseases

    Background:

    • Krabbe's disease is a rare genetic disorder affecting the nervous system.
    • It is characterized by the accumulation of galactosylceramide due to a deficiency in the enzyme galactocerebrosidase.
    • Morphological diagnosis often relies on identifying characteristic ultrastructural inclusions.

    Observation:

    • Biopsy specimens from a Krabbe's disease patient revealed unusual periodically constricted or twisted tubules.
    • These structures were observed alongside the typical crystalloid and prismatic inclusions within macrophages.
    • The presence of these tubular forms was noted in both brain and sural nerve tissues.

    Findings:

    • The study suggests that these novel twisted tubules may arise from the intracellular buildup of lactosyl ceramide.

    Related Experiment Videos

  • This finding expands the known ultrastructural pathology of Krabbe's disease.
  • The observed structures provide further insight into the cellular mechanisms of the disease.

    • Implications:

    • Recognizing these unusual tubular structures is crucial for accurate morphological diagnosis of Krabbe's disease.
    • This knowledge aids clinicians in interpreting nerve and brain biopsy findings.
    • It highlights the importance of detailed ultrastructural examination in diagnosing lysosomal storage disorders.