Open AccessCortical and subcortical atrophy in individuals with Huntington's disease and Huntington-like disease
Author(s) -
Thierry Kaue Alves Silva Souza,
Nara Maria Borges Alves,
Fabiana Moraes,
Felipe de Paula,
Luciana Yasuda Suemitsu,
Paula Azevedo,
Luiza Piovesana,
Luciana Cardoso Bonadia,
Fernando Cendes,
Alberto Rolim Muro Martinez,
Íscia Teresinha Lopes Cendes,
Clarissa Lin Yasuda
Publication year - 2021
Language(s) - English
Resource type - Conference proceedings
DOI - 10.5327/1516-3180.551
Subject(s) - putamen , huntington's disease , atrophy , medicine , voxel based morphometry , pathology , psychology , neuroscience , white matter , disease , magnetic resonance imaging , radiology
Background: Huntington-like (HL) syndrome represents a group of diseases clinically similar to Huntington disease (HD) with different genetic etiology. Here, we aimed to compare clinical and neuroimaging features between HL and HD. Methods: We assessed 12 patients with HL (6 men; 53.66±13.02 years old) and 12 with HD (genetically confirmed, 6 men; 52.58±11.64 years old). All patients were followed at UNICAMP and were matched to sex, age, age at onset and duration of disease. They underwent 3T MRI scans, detailed neurological examination, the unified Huntington’s disease rating scale (UHDRS), the Montreal cognitive assessment (MOCA), Beck depression inventory (BDI), and the scale for the evaluation of rating ataxia (SARA). We APPLIED voxel-based morphometry technique (SPM12/CAT12/MATLAB software) to assess differences in the gray and white matters between groups and matched controls. Results: Groups were clinically similar, but the VBM study revealed widespread cortical (bilateral) and subcortical atrophy in HD (bilateral globi pallidi, amygdala, hippocampi, caudate and putamen), with a more restricted cortical (left temporal lobe) subcortical atrophy in HL (bilateral thalami, putamen and left hippocampus). Cortical atrophy in HL concentrated in the bilateral putamen. The left hippocampus were atrophic in both groups. Conclusion: Despite similar clinical presentation, patients with HL and HD have distinctive patterns of atrophy subcortical structures, mainly in the thalami. These results may raise insights into the underlying disease mechanisms in HL and HD and could be useful as biomarkers of disease progression in future therapy trials.