Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Alzheimer Disease ll: Pathophysiology

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 ll: Pathophysiology

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...

Huntington Disease l: Introduction

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,...

You might also read

Related Articles

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

Sort by

Same author

Enhancing Outcome Measurement in Oncology Clinical Trials Through Artificial Intelligence: A Scoping Review.

JCO clinical cancer informatics·2026

Same author

Clinical Audit of the Emergency Management of Convulsive Status Epilepticus in Children Subsequently Admitted to Paediatric Intensive Care.

Cureus·2026

Same author

Prevalence, treatment and survival of Malignant Peripheral Nerve Sheath Tumor in the Danish neurofibromatosis type 1 population.

The oncologist·2026

Same author

Cross-Institutional Validation of a novel LLM-Based Cardiac Event Extraction framework from Electronic Health Records.

International journal of radiation oncology, biology, physics·2026

Same author

Tobacco retailer density in the Northern Territory, Australia.

Rural and remote health·2026

Same author

Phase II Trial of First-Line Durvalumab and Chemotherapy in Patients With Extra-Pulmonary Small Cell Carcinoma.

JTO clinical and research reports·2026

Search research articles

Related Experiment Video

Updated: Jul 19, 2026

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

Characterizing White Matter in Huntington's Disease.

Sarah Gregory¹, Eileanoir Johnson¹, Lauren M Byrne¹

¹University College London Huntington's Disease Centre, Department of Neurodegenerative Disease University College London Queen Square Institute of Neurology, University College London London United Kingdom.

Movement Disorders Clinical Practice

|January 24, 2020

Summary

Early white matter changes in Huntington's disease (HD) involve reduced integrity and increased axonal degeneration. These findings correlate with disease progression and mutant huntingtin protein levels, offering insights into HD pathology.

Keywords:

Huntington's disease MRI neurofilament light (NfL)white matter

More Related Videos

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

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

Published on: June 9, 2018

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Related Experiment Videos

Last Updated: Jul 19, 2026

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

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

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

Published on: June 9, 2018

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Area of Science:

Neuroscience
Neurology
Biomarkers

Background:

Understanding early white matter (WM) changes in Huntington's disease (HD) is crucial for elucidating disease spread from the striatum.
Early detection of WM alterations can provide insights into the neurodegenerative processes in HD.

Purpose of the Study:

To provide a detailed characterization of pathology-related WM changes in HD.
To examine WM microstructure using diffusion-weighted imaging and investigate underlying biological properties and damage markers.
To correlate WM changes with biofluid markers like neurofilament light and mutant huntingtin protein.

Main Methods:

Utilized diffusion magnetic resonance imaging (dMRI) to measure fractional anisotropy (FA) and diffusivity in HD gene carriers and controls.
Employed neurite orientation dispersion and density imaging (NODDI) to assess axonal density and organization.
Analyzed T1/T2-weighted MRI for iron and myelin-contrast measures, alongside cerebrospinal fluid (CSF) and plasma neurofilament light (NfL) and CSF mutant huntingtin protein (mHTT) levels.

Main Results:

HD gene carriers showed reduced FA and increased diffusivity compared to controls, correlating with disease progression and mHTT levels.
HD gene carriers exhibited reduced myelin-contrast and iron in the striatum.
Axonal breakdown was linked to increased WM degeneration, indicated by reduced FA and increased axonal orientation.

Conclusions:

Findings offer a comprehensive characterization of HD-related microstructural brain changes.
Reduced FA and increased axonal orientation correlate with biofluid markers, suggesting axonal breakdown contributes to WM degeneration.
Higher T2 signal and lower myelin-contrast in the striatum may indicate localized demyelination in HD.