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

Angelman's syndrome: a neuropathological study.

T Kyriakides1, L A Hallam, A Hockey

  • 1Department of Neuropathology, Royal Perth Hospital, Western Australia.

Acta Neuropathologica
|January 1, 1992
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

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.

European journal of neurology·2026
Same author

Inhibitory control in prospective memory: An event related potential comparison of task-switch and dual task processing.

Neuropsychologia·2021
Same author

The importance of adjuvant treatment and primary anatomical site in head and neck basaloid squamous cell carcinoma survival: an analysis of the National Cancer Database.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·2020
Same author

Important prognostic factors in leiomyosarcoma survival: a National Cancer Database (NCDB) analysis.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·2019
Same author

Distal Hereditary Motor Neuronopathy of the Jerash Type.

Annals of the New York Academy of Sciences·2017
Same author

Distal Hereditary Motor Neuronopathy of the Jerash Type.

Annals of the New York Academy of Sciences·2017

This study details the brain abnormalities in a child with Angelman syndrome, noting smaller frontal and temporal lobes with irregular gyri. Microscopic examination revealed neuronal migration issues in these areas.

Area of Science:

  • Neuropathology
  • Developmental Neuroscience
  • Genetics

Background:

  • Angelman syndrome is a genetic disorder affecting neurological development.
  • Understanding the neuropathological basis is crucial for diagnosis and treatment.

Observation:

  • Macroscopic brain abnormalities included reduced size and disorganized gyri in the temporal and frontal lobes.
  • Microscopic findings revealed irregular neuronal distribution and ectopic neurons in the cerebral white matter.

Findings:

  • The neuropathology in this case of Angelman syndrome involved significant cortical malformations.
  • Specific findings include neuronal ectopia and heterotopia, particularly in the frontal and temporal regions.

Implications:

Related Experiment Videos

  • These findings contribute to the understanding of brain development alterations in Angelman syndrome.
  • Detailed neuropathological reports aid in correlating genotype with phenotype and refining diagnostic criteria.