Magnetic resonance imaging as an approach towards identifying neuropathological biomarkers for Huntington's disease

Magnetization Transfer MR Imaging Demonstrates Degeneration of the Subcortical and Cortical Gray Matter in Huntington Disease

“…Conversely, the correlation we observed between clinical features and volume measurements is substantially in line with prior data in larger sample sizes of symptomatic HD carriers. 1 In particular, the correlation between cortical atrophy and some clinical features supports the view that the distribution and severity of cerebral cortical atrophy might contribute to the clinical heterogeneity of HD. 4 More interesting, the regional subcortical and cortical MT ratio measurements showed a general correlation with the same clinical variables.…”

“…1 In particular, T1-weighted images can be used to quantify and monitor, in vivo, the irreversible loss of volume of the GM structures typically affected by the disease, such as the striatum and the cerebral cortex, and of the cerebral WM. [2][3][4] Interest is increasing in the capability of MR imaging to detect and quantify the microstructural changes of the residual GM or WM in HD, with the prospect of using them as surrogate markers in clinical trials assessing the new therapies aimed at halting or even reversing neurodegeneration.…”

“…[2][3][4] Interest is increasing in the capability of MR imaging to detect and quantify the microstructural changes of the residual GM or WM in HD, with the prospect of using them as surrogate markers in clinical trials assessing the new therapies aimed at halting or even reversing neurodegeneration. 1 Diffusion-weighted or diffusion tensor MR imaging studies have documented a distributed pattern of damage in the remaining WM in HD. [5][6][7][8] While increased diffusivity was reported in the striatal nuclei in symptomatic HD carriers, 5,9 recently Mandelli et al 10 reported a bimodal behavior of diffusion changes in the striatal nuclei of HD carriers with decreased diffusivity in the caudate but not in the putamen of presymptomatic subjects and increased diffusivity in the putamen and caudate in symptomatic subjects.…”

Imaging of Huntington's disease

“…6 Moreover in vivo functional MRI and diffusion tensor imaging (DTI) have shown promise in detection of preclinical HD mutation carrier years before the onset of symptoms. 7 To conclude neuroimaging, particularly MRI, remains a cornerstone in the diagnosis and assessing the severity of Huntington's disease. Genetic testing can be used to confirm the diagnosis if the family history is not forthcoming.…”

Diffusion magnetic resonance imaging for Brainnetome: A critical review

“…In tracing the cause, should one seek a localized neurological abnormality, a single functional network, or a single cognitive-behavioral domain [129] ? Müller's arguments are also applicable to other neuropsychiatric diseases, including Huntington disease [130] , traumatic brain injury [91,92] , and others [8,88] .…”