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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

82
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...
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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI&#8212;Application in Premanifest Huntington's Disease
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Neuroimaging in Huntington's disease.

Flavia Niccolini1, Marios Politis1

  • 1Flavia Niccolini, Marios Politis, Neurodegeneration Imaging Group, Department of Clinical Neuroscience, King's College London, London SE5 8AF, United Kingdom.

World Journal of Radiology
|July 1, 2014
PubMed
Summary

Huntington's disease (HD) research highlights neuroimaging's role. Advanced MRI and PET scans detect brain changes early, aiding biomarker discovery for new therapies.

Keywords:
Functional magnetic resonance imagingHuntington’s diseaseMagnetic resonance imagingPositron emission tomographyPremanifest Huntington’s disease gene carriers

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Area of Science:

  • Neuroscience
  • Genetics
  • Medical Imaging

Background:

  • Huntington's disease (HD) is a fatal neurodegenerative disorder caused by a CAG expansion in the huntingtin gene.
  • HD presents with motor, cognitive, and psychiatric symptoms, but disease mechanisms and progression remain unclear.
  • Current treatments are purely symptomatic, emphasizing the need for biomarkers to track disease and evaluate therapies.

Purpose of the Study:

  • To review the current neuroimaging literature on Huntington's disease.
  • To explore the utility of MRI and PET in understanding HD pathogenesis and progression.
  • To assess the potential of multimodal imaging as a biomarker for therapeutic interventions.

Main Methods:

  • Review of magnetic resonance imaging (MRI) studies in HD.
  • Review of positron emission tomography (PET) studies in HD.
  • Analysis of multimodal imaging approaches combining MRI and PET.

Main Results:

  • Neuroimaging techniques like MRI and PET can detect brain alterations in HD gene carriers years before symptom onset.
  • These techniques are valuable for monitoring disease progression in Huntington's disease.
  • No single imaging technique has been definitively validated as an optimal biomarker for HD.

Conclusions:

  • Neuroimaging offers significant insights into Huntington's disease progression and early detection.
  • An integrated multimodal imaging approach may be crucial for monitoring therapeutic efficacy.
  • Further validation is needed to establish optimal neuroimaging biomarkers for HD clinical trials.