Huntington's disease : morphometric chances in prodromal and diagnosed patients

Abstract

Neuroimaging studies have proven to be a valuable resource in Huntington’s disease (HD). As an autosomal dominant genetic disorder, it is possible to identify individuals before they manifest clinical symptoms (“prodromal HD”). This study was designed to assess if neuroimaging measures could be useful to successfully distinguish prodromal individuals from previously clinically diagnosed patients. Seven participants with previously clinically diagnosed disease and eight individuals in a presymptomatic state underwent brain magnetic resonance imaging (MRI) and were matched and compared to a group of thirteen healthy controls. Cortical reconstruction and volumetric segmentation was performed with FreeSurfer 5.1. We have found significant statistical differences on Caudate, Putamen and Globus Pallidus, from both hemispheres. Diagnosed group had smaller volumes when compared to Prodromal and Control group. Thickness maps derived from Diagnosed and Control groups’ comparison revealed a thinning pattern affecting mostly the posterior and superior cerebral regions. Our results suggest that structural MRI volumes and thickness maps can be useful to monitor Huntington’s disease progression, allowing researchers to identify individuals in different stages of the disease. Clinical trials might benefit the most, by synergizing the current clinical diagnostic method with MRI measures to track neurodegenerative patterns of HD