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 Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Genetic Lingo01:11

Genetic Lingo

Overview

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

Related Experiment Video

Updated: Jul 16, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Huntington's Disease.

Francis O Walker1

  • 1Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157-1078, USA.

Seminars in Neurology
|March 29, 2007
PubMed
Summary

Huntington's disease is a progressive neurodegenerative disorder impacting movement, cognition, and behavior. Current treatments manage symptoms, as therapies to slow neuronal degeneration are unavailable.

Area of Science:

  • Neurology
  • Genetics
  • Neurodegenerative Diseases

Background:

  • Huntington's disease (HD) is a progressive neurodegenerative disorder typically manifesting between ages 35-45.
  • It presents with movement, cognitive, and behavioral impairments.
  • HD is an autosomal-dominant condition significantly affecting family dynamics and caregiving.

Purpose of the Study:

  • To summarize the clinical presentation and management of Huntington's disease.
  • To highlight the impact of HD on families and at-risk individuals.
  • To outline current therapeutic strategies and the role of clinical intervention.

Main Methods:

  • Literature review of Huntington's disease characteristics.
  • Analysis of current pharmacotherapy approaches.

More Related Videos

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
09:06

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

Related Experiment Videos

Last Updated: Jul 16, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
09:06

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

  • Evaluation of clinical counseling and support strategies.

    • Main Results:

    • No available therapy slows the progressive neuronal dysfunction or degeneration in HD.
    • Pharmacotherapy focuses on managing behavioral, psychiatric symptoms, and chorea.
    • Clinical intervention includes providing information, genetic testing counseling, and advice on life management.

    Conclusions:

    • Effective clinical management of Huntington's disease involves comprehensive patient and family support.
    • While disease-modifying therapies are lacking, symptom management and counseling are crucial.
    • Addressing the psychosocial and practical aspects of HD is essential for affected individuals and families.