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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,...
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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...
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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...
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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

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Related Experiment Video

Updated: Jul 15, 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

Understanding the cellular architecture of Huntington's disease.

Dorian Pustina1

  • 1CHDI Management, Inc, Princeton, United States.

Elife
|July 14, 2026
PubMed
Summary

A new diffusion MRI technique reveals cellular changes in the basal ganglia, offering insights into Huntington's disease progression. This method helps visualize the brain

Area of Science:

  • Neuroimaging
  • Neuroscience
  • Biomedical Engineering

Background:

  • Huntington's disease is a neurodegenerative disorder affecting the basal ganglia.
  • Understanding cellular anomalies is crucial for tracking disease progression.

Purpose of the Study:

  • To introduce a novel diffusion MRI method for visualizing cellular architecture.
  • To investigate basal ganglia degeneration in Huntington's disease at a cellular level.

Main Methods:

  • Development of an advanced diffusion MRI sequence.
  • Application of the technique to study basal ganglia in Huntington's disease models or patients.

Main Results:

  • The diffusion MRI approach successfully visualized anomalies in cellular architecture.
Keywords:
Huntington'sImagingNeurite Densityhumanneurodegenerationneuroscience

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

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Related Experiment Videos

Last Updated: Jul 15, 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

Microtubule Plus-End Dynamics Visualization in Huntington's Disease Model based on Human Primary Skin Fibroblasts
10:38

Microtubule Plus-End Dynamics Visualization in Huntington's Disease Model based on Human Primary Skin Fibroblasts

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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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  • Specific changes in the basal ganglia indicative of degeneration were identified.
  • Conclusions:

    • This new diffusion MRI technique provides unprecedented insights into the cellular basis of Huntington's disease.
    • The findings pave the way for improved diagnostic and monitoring tools for neurodegenerative disorders.