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

Ataxia telangiectasia

T O Crawford1

  • 1Department of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Seminars in Pediatric Neurology
|January 6, 1999
PubMed
Summary
This summary is machine-generated.

Cloning the ATM gene in 1995 advanced research into ataxia-telangiectasia. ATM-deficient mice show cellular features but not the neurodegeneration seen in this complex genetic disorder.

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

Cerebral abnormalities in adults with ataxia-telangiectasia.

AJNR. American journal of neuroradiology·2013
Same author

Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders.

Neurology·2011
Same author

Gaze fixation deficits and their implication in ataxia-telangiectasia.

Journal of neurology, neurosurgery, and psychiatry·2009
Same author

Acute transverse myelitis in childhood: center-based analysis of 47 cases.

Neurology·2007
Same author

Proton MR spectroscopic imaging in ataxia-telangiectasia.

Neuropediatrics·2006
Same author

Survival probability in ataxia telangiectasia.

Archives of disease in childhood·2006
Same journal

Concussion in contact sport: risks, detection, & prevention.

Seminars in pediatric neurology·2026
Same journal

A multidisciplinary, symptom-targeted approach to rehabilitation in pediatric concussion.

Seminars in pediatric neurology·2026
Same journal

Pediatric concussion beyond sports: Falls, play, and everyday activities.

Seminars in pediatric neurology·2026
Same journal

Return-to-school protocols in pediatric concussion care.

Seminars in pediatric neurology·2026
Same journal

Improving concussion recognition in youth sports: the role of parents, coaches, and community education.

Seminars in pediatric neurology·2026
Same journal

Concussion management, rehabilitation, and societal impact.

Seminars in pediatric neurology·2026
See all related articles

Area of Science:

  • Cell biology
  • Genetics
  • Neuroscience

Background:

  • Ataxia-telangiectasia (A-T) is a complex genetic disorder that has challenged clinicians for decades.
  • The ATM gene, responsible for A-T, was cloned in 1995, opening new avenues for biological research.
  • The disorder presents a variable yet stereotyped phenotype, with challenges in early diagnosis impacting family planning.

Purpose of the Study:

  • To explore the biological consequences of ATM deficiency.
  • To investigate the utility of ATM-deficient mouse models in studying ataxia-telangiectasia.
  • To compare cellular and neurodegenerative features in mouse models with human A-T patients.

Main Methods:

  • Gene cloning and characterization of the ATM gene.
  • Development and analysis of ATM-deficient transgenic mouse models.

Related Experiment Videos

  • Comparative analysis of cellular phenotypes between mouse models and human patients.

    • Main Results:

    • Newly produced ATM-deficient transgenic mice exhibit many cellular features characteristic of ataxia-telangiectasia.
    • These mouse models have not yet replicated the distinctive neurodegeneration observed in human A-T patients.
    • The cloning of ATM has provided significant insights into the cellular complexities of the disorder.

    Conclusions:

    • ATM-deficient mice are valuable models for studying the cellular aspects of ataxia-telangiectasia.
    • Further research is needed to fully recapitulate the neurodegenerative phenotype in animal models.
    • Understanding ATM's role is crucial for advancing research into this complex genetic disorder.