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

Huntington's disease.

Francis O Walker1

  • 1Department of Neurology, Wake Forest University, Medical Center Blvd, Winston Salem, NC 27157, USA. fwalker@wfubmc.edu

Lancet (London, England)
|January 24, 2007
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

Pre-Procedural Imaging.

ANZ journal of surgery·2025
Same author

Expert consensus on the combined investigation of polyneuropathies with electrodiagnostic tests and neuromuscular ultrasound.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2025
Same author

Ultrasonographic Identification of Pacinian Corpuscles in the Hand: A Pilot Study of Technique and Reliability.

Muscle & nerve·2025
Same author

The Role of Neuromuscular Ultrasound in the Diagnosis of Peripheral Neuropathy.

Seminars in neurology·2024
Same author

Fasciculomics or fasciculometrics?

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2024
Same author

Latency and distance.

Muscle & nerve·2023

Huntington's disease is a progressive neurodegenerative disorder caused by a toxic gain of function from the mutant huntingtin protein. Research in animal models is uncovering causative factors and potential treatments for this condition.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder.
  • It presents with motor deficits (chorea, dystonia), cognitive decline, and behavioral changes.
  • Symptom onset typically occurs in middle age, after reproductive years.

Purpose of the Study:

  • To understand the pathophysiological mechanisms of Huntington's disease.
  • To investigate the role of the mutant huntingtin protein and its polyglutamine tract.
  • To explore potential therapeutic targets using animal models.

Main Methods:

  • Utilizing transgenic animal models of Huntington's disease.
  • Analyzing the effects of the expanded CAG repeat and polyglutamine tract in huntingtin.

Related Experiment Videos

  • Investigating the toxic gain-of-function mechanism.

    • Main Results:

    • The mutant huntingtin protein, resulting from an expanded CAG repeat, leads to a polyglutamine strand.
    • This polyglutamine tract is implicated in a toxic gain-of-function mechanism.
    • Transgenic animal models provide insights into disease causation.

    Conclusions:

    • The precise pathophysiological mechanisms of Huntington's disease are still under investigation.
    • Research in animal models is crucial for understanding causative factors.
    • These models offer a platform for developing potential treatments for Huntington's disease.