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

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids.

M S van der Knaap1, S Naidu, B K Kleinschmidt-Demasters

  • 1Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands. ms.vanderknaap@azvu.nl

Neurology
|February 11, 2000
PubMed
Summary

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare, autosomal dominant white matter disorder. Diagnosis requires histopathologic confirmation due to its distinct clinical and MRI findings.

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

Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory.

Neuropediatrics·2026
Same author

Monitoring the Response of a Pineal Parenchymal Tumor of Intermediate Differentiation With Cerebrospinal Fluid Dissemination Using a Circulating Tumor Cell Assay.

Cureus·2026
Same author

Primary hypophysitis: Classification review.

Journal of neuropathology and experimental neurology·2025
Same author

Histopathologic Analysis of 5 Patients with CSF-Venous Fistulas after Surgical Nerve Root Ligation and Resection.

AJNR. American journal of neuroradiology·2025
Same author

TBX19/SF1 co-expressing pituitary neuroendocrine tumor/pituitary adenomas add to the lineage infidelity.

Journal of neuropathology and experimental neurology·2025
Same author

The Brief Case: <i>Acanthamoeba</i> meningoencephalitis in a transplant recipient.

Journal of clinical microbiology·2025

Area of Science:

  • Neurology
  • Neuroscience
  • Pathology

Background:

  • Progressive leukoencephalopathies present diagnostic challenges in both pediatric and adult patients.
  • Histopathologic examination of brain tissue is often necessary for definitive diagnosis.

Observation:

  • This study details clinical, MRI, and histopathologic findings in three patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS).
  • Patients presented with adult-onset neurologic deterioration, frontal lobe dysfunction, epilepsy, spasticity, ataxia, and extrapyramidal disturbances.

Findings:

  • MRI revealed cerebral atrophy and patchy white matter changes, predominantly in frontal and frontoparietal regions, affecting the internal capsule and brainstem pyramidal tracts.
  • Autopsy confirmed leukoencephalopathy with frontoparietal predominance and numerous neuroaxonal spheroids in affected white matter.

Related Experiment Videos

Implications:

  • The homogeneity of findings across patients suggests HDLS is a distinct disease entity.
  • Histopathologic confirmation is crucial for diagnosing HDLS in the absence of genetic or biochemical markers.