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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...
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'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...
Dementia l: Introduction01:22

Dementia l: Introduction

Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...

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Related Experiment Video

Updated: Jun 2, 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 - neuropathology.

Jean Paul G Vonsattel1, Christian Keller, Etty Paola Cortes Ramirez

  • 1Department of Pathology, Presbyterian Hospital and Columbia University, New York, NY 10032, USA. jgv2001@columbia.edu

Handbook of Clinical Neurology
|April 19, 2011
PubMed
Summary
This summary is machine-generated.

Huntington disease is caused by a CAG repeat expansion on chromosome 4, leading to toxic huntingtin protein. The CAG repeat length influences disease onset and severity, primarily affecting the brain, especially the striatum.

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Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
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Last Updated: Jun 2, 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

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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
  • Molecular Biology

Background:

  • Huntington disease (HD) is a neurodegenerative disorder caused by an expansion of CAG trinucleotide repeats in the HTT gene on chromosome 4.
  • This expansion leads to an abnormally long polyglutamine (polyQ) tract in the huntingtin protein, conferring toxicity.

Observation:

  • Mutated huntingtin protein is present throughout the body, but pathological changes are primarily observed in the brain.
  • The extent of CAG repeat expansion correlates with the degree of brain atrophy, particularly in the striatum.
  • Disease onset is insidious, with longer CAG expansions linked to earlier symptom manifestation, including psychiatric, motor, and cognitive deficits.

Findings:

  • Juvenile-onset HD patients often exhibit parkinsonism and rigidity, with more significant brain atrophy compared to adult-onset patients who typically show chorea.
  • Late-onset HD may present with age-related brain changes superimposed on HD-specific pathology.
  • The precise pathogenesis of HD and the selective vulnerability of neurons remain incompletely understood.

Implications:

  • Ongoing research explores various mechanisms, including apoptosis, protein aggregation, impaired trophic factor signaling, mitochondrial dysfunction, and excitotoxicity, to elucidate HD pathogenesis.
  • Understanding these mechanisms is crucial for developing targeted therapeutic strategies for Huntington disease.
  • Further investigation into neuronal vulnerability factors may reveal novel pathways for intervention.