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Huntington Disease l: Introduction

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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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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

A longitudinal diffusion tensor imaging study in symptomatic Huntington's disease.

Anusha Sritharan¹, Gary F Egan, Leigh Johnston

¹School of Psychology, Psychiatry and Psychological Medicine, Monash University, Clayton, Victoria, Australia.

Journal of Neurology, Neurosurgery, and Psychiatry

|February 25, 2009

Summary

This summary is machine-generated.

Diffusion tensor imaging reveals higher mean diffusivity in the striatum of Huntington's disease (HD) patients compared to controls. Microstructural changes in the caudate and putamen correlate with cognitive status in symptomatic HD.

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Area of Science:

Neuroimaging
Neurology
Biomarkers

Background:

The striatum is an early site of pathology in Huntington's disease (HD).
Diffusion tensor imaging (DTI) can detect microstructural changes in the brain.

Purpose of the Study:

To investigate the progression of striatal pathology in symptomatic HD using DTI.
To assess microstructural differences in the striatum between HD patients and healthy controls.

Main Methods:

Acquired diffusion-weighted images in 18 HD patients and 17 controls at baseline and 1-year follow-up.
Calculated mean diffusivity (MD) in the caudate, putamen, thalamus, and corpus callosum.
Correlated caudate width and MD, and MD with clinical measures in HD patients.

Main Results:

Significantly higher MD in the caudate and putamen of HD patients compared to controls at both time points.
No significant changes in MD over 1 year in any region for either group.
Negative correlation between caudate width and MD in HD patients; negative correlation between cognitive scores and striatal MD in HD patients.

Conclusions:

Microstructural changes in the striatum are associated with cognitive status in symptomatic HD.
While MD is elevated in HD patients, no longitudinal changes were observed over 1 year.
MD may serve as a sensitive biomarker for early detection of preclinical HD.