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 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...
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...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
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...
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...

You might also read

Related Articles

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

Sort by
Same author

[Correction: Myotonic dystrophy type 1 – a multiorgan disorder].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2024
Same author

Myotonic dystrophy type 1 - a multiorgan disorder.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2024
Same author

[Cousins should be allowed to marry].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2023
Same author

Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls.

Journal of genetic counseling·2018
Same author

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

European journal of human genetics : EJHG·2018
Same author

Effect of epilepsy on autism symptoms in Angelman syndrome.

Molecular autism·2018
Same journal

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

Correction: Management of acute epistaxis.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

A woman in her 70s with chest pain and elevated troponin T levels.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

More systematic follow-up after childbirth.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
See all related articles

Related Experiment Video

Updated: Jun 29, 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].

Arvid Heiberg1

  • 1Avdeling for medisinsk genetikk, Rikshospitalet, 0027 Oslo. arvid.heiberg@rikshospitalet.no

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|October 11, 2008
PubMed
Summary
This summary is machine-generated.

Huntington's disease is a progressive neurodegenerative disorder affecting the central nervous system (CNS). This summary covers its symptoms, genetic factors, and diagnostic challenges, including pre-symptomatic and prenatal testing.

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

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
08:27

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Published on: March 11, 2020

Related Experiment Videos

Last Updated: Jun 29, 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

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
08:27

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Published on: March 11, 2020

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Context:

  • Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder.
  • It primarily affects the striatum in the central nervous system (CNS).
  • Characterized by involuntary movements (chorea), personality changes, and dementia.

Purpose:

  • To outline the clinical presentation and progression of Huntington's disease.
  • To discuss the molecular and clinical genetic aspects of HD.
  • To highlight therapeutic challenges and diagnostic strategies, including pre-symptomatic and prenatal diagnosis.

Summary:

  • HD is a slowly degenerative apoptotic condition with a typical onset between 35-55 years, though early and late onset cases occur.
  • The disease progresses over an average of 15 years post-diagnosis.
  • Key features include chorea, personality alterations, and subcortical dementia, impacting CNS function.

Impact:

  • Provides a comprehensive overview of Huntington's disease for clinicians and researchers.
  • Emphasizes the importance of genetic counseling and diagnostic advancements.
  • Informs understanding of therapeutic challenges and patient management strategies.