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

Alexander's disease: clinical, pathologic, and genetic features.

Anne B Johnson1, Michael Brenner

  • 1Department of Pathology-K604, Albert Einstein College of Medicine, 1300 Morris Park Ave., Bronx, NY 10461, USA. abminkoff@att.net

Journal of Child Neurology
|October 24, 2003
PubMed
Summary

Alexander disease is a rare neurological disorder affecting all ages, characterized by developmental issues and seizures in infants. Genetic mutations in the glial fibrillary acidic protein gene are now a key diagnostic marker.

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

Global distribution and evolution of human metapneumovirus A2b2 clade: Insights from genomic surveillance.

Epidemiology and infection·2026
Same author

Author Correction: Temporal structure of natural language processing in the human brain corresponds to layered hierarchy of large language models.

Nature communications·2026
Same author

Tracheostomy in the Digital Age: How Artificial Intelligence and Immersive Technologies Are Redefining Airway Care.

Tracheostomy (Warrenville, Ill.)·2026
Same author

Global Predictors of Tracheostomy-Related Pressure Injury During COVID-19: Research Protocol.

ORL-head and neck nursing : official journal of the Society of Otorhinolaryngology and Head-Neck Nurses·2025
Same author

Temporal structure of natural language processing in the human brain corresponds to layered hierarchy of large language models.

Nature communications·2025
Same author

Magnetic decoupling as a proofreading strategy for high-yield, time-efficient microscale self-assembly.

Proceedings of the National Academy of Sciences of the United States of America·2025

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Alexander disease is a rare, fatal central nervous system disorder.
  • It presents with varied symptoms across different age groups, from infancy to adulthood.
  • Characteristic neuropathological findings include Rosenthal fibers in brain tissue.

Purpose of the Study:

  • To summarize the clinical manifestations and diagnostic features of Alexander disease.
  • To highlight the role of genetic mutations in the diagnosis and understanding of the disease.
  • To provide an overview of Alexander disease across different age demographics.

Main Methods:

  • Review of clinical case presentations across infants, children, and adults.
  • Analysis of neuroimaging findings, particularly magnetic resonance imaging (MRI).

Related Experiment Videos

  • Examination of neuropathological hallmarks, specifically Rosenthal fibers.
  • Genetic analysis to identify mutations in the glial fibrillary acidic protein (GFAP) gene.

    • Main Results:

    • Infantile and juvenile forms present with developmental delay, psychomotor retardation, seizures, and often megalencephaly.
    • Adult forms exhibit variable symptoms, sometimes mimicking multiple sclerosis, and may include palatal myoclonus.
    • Consistently identified are Rosenthal fibers in brain tissue across all age groups.
    • Heterozygous missense point mutations in the GFAP gene are found in nearly all cases, serving as a diagnostic tool.

    Conclusions:

    • Alexander disease is a genetically defined disorder linked to GFAP mutations.
    • The identification of GFAP mutations provides a significant diagnostic advancement.
    • Understanding the varied clinical presentations is crucial for accurate diagnosis and management.