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,...
Neural Regulation01:37

Neural Regulation

Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
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...
Clinical Trials: Overview01:11

Clinical Trials: Overview

Clinical development focuses on how the drug will interact with the human body and encompasses four key phases of clinical trials, each serving a specific purpose in assessing the safety and effectiveness of new drugs. These phases overlap and build upon one another. Phase I involves a small group of healthy volunteers (typically 20-80 individuals) or, in cases where significant toxicity is expected, patients with the targeted disease, such as cancer or AIDS. The volunteers are tested for...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The pathological Huntingtin CAG triplet expansion differentially affects the diagnosis of systemic and organ-specific autoimmune diseases.

Frontiers in immunology·2026
Same author

Everyday and task-based cognition shape emotion regulation effectiveness in Parkinson's disease.

Parkinsonism & related disorders·2026
Same author

Mental health support and psychotherapy in Parkinson's: from misalignments to meaningful interactions.

Aging & mental health·2026
Same author

The functional neuroanatomy of event-based and time-based prospective memory, and its improvement.

Communications biology·2026
Same author

Oral splicing modulator branaplam in Huntington's disease: a phase 2 randomized controlled trial.

Nature medicine·2026
Same author

Multi-Platform analytics integration for clinical trial Recruitment: A digital health informatics implementation framework.

International journal of medical informatics·2025

Related Experiment Video

Updated: Jun 8, 2026

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

Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY.

Michael Orth1, Olivia J Handley, Carsten Schwenke

  • 1Department of Neurology, University of Ulm, Ulm Germany

Plos Currents
|March 2, 2012
PubMed
Summary

Huntington's disease (HD) is a rare genetic disorder. The European Huntington's Disease Network's study collected extensive data, revealing disease progression patterns and informing future treatment development.

More Related Videos

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
09:33

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

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

Related Experiment Videos

Last Updated: Jun 8, 2026

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

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
09:33

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

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

Area of Science:

  • Neuroscience
  • Genetics
  • Clinical Research

Background:

  • Huntington's disease (HD) is a rare triplet repeat (CAG) disorder.
  • Advanced, multi-centre, multi-national research frameworks are essential for studying HD's natural history, management, and for collecting clinical data and biosamples.

Purpose of the Study:

  • To establish a comprehensive, multi-national research framework for Huntington's disease.
  • To collect and analyze data on HD natural history, phenotype, genotype, and treatment.

Main Methods:

  • Cross-sectional data from 1766 participants in the European Huntington's Disease Network's (EHDN) REGISTRY study.
  • Standardized data collection protocol including demographics, phenotype, genotype, medication, co-morbidities, and biosamples.

Main Results:

  • Phenotype and genotype were similar across European regions. Motor onset occurred in 48% of patients.
  • Motor signs increased, while cognitive and functional capacities declined with increased disease burden (CAGn-35.5) x age).
  • Severe psychiatric issues were noted in one-fifth of participants; anti-dyskinetic medication correlated with higher motor and lower cognitive scores.

Conclusions:

  • The EHDN's REGISTRY provides an unparalleled collection of clinical data and biomaterials.
  • This resource can accelerate the identification of genetic and environmental disease modifiers.
  • Findings may aid in developing novel therapeutic strategies for Huntington's disease.