Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis

J Neurol Sci. 2020 Jan 15:408:116545. doi: 10.1016/j.jns.2019.116545. Epub 2019 Oct 21.


Background and purpose: Chorea-acanthocytosis is clinically difficult to distinguish from Huntington's disease because these disorders have similar symptoms and MR imaging findings. We evaluated the usefulness of single-case voxel-based morphometry (VBM) analysis for differentiating the two diseases as well as VBM analysis.

Materials and methods: We examined five genetically proven chorea-acanthocytosis patients and 11 Huntington's disease patients to detect differences in the gray and white matter atrophic pattern by using single-case VBM analysis in each patient and their clinical findings. We also evaluated VBM analysis for a group comparison in both disease and control groups.

Results: The single-case VBM analysis results demonstrated a gray matter volume loss in caudate nucleus in all 16 patients. A characteristic symmetrical white matter volume loss was detected in globus pallidus, putamen, and thalamus on both sides in all the chorea-acanthocytosis patients, but this pattern of atrophy was not seen in any of the Huntington's disease patients. With the VBM analysis, a significant gray matter volume loss was noted in caudate nucleus on both sides in chorea-acanthocytosis patients compared with Huntington's disease patients, and a more extensive white matter volume loss around the basal ganglia and thalamus was observed in chorea-acanthocytosis patients compared to Huntington's disease patients, consistent with the single-case VBM analysis results. Genetic testing identified two novel pathogenic mutations, exon 1 c.16_22delGTGGTCG and exon 55 c.7736-7739delGAGA in a chorea-acanthocytosis patient.

Conclusions: Single-case VBM analysis may be useful to differentiate chorea-acanthocytosis from Huntington's disease with a focus on white matter atrophy.

Keywords: Chorea-acanthocytosis; Huntington's disease; Movement disorder; Single-case voxel-based morphometry analysis; Voxel-based morphometry; Voxel-based specific regional analysis system for Alzheimer's disease.

MeSH terms

  • Adult
  • Aged
  • Chorea / diagnostic imaging*
  • Chorea / psychology
  • Diagnosis, Differential
  • Female
  • Humans
  • Huntington Disease / diagnostic imaging*
  • Huntington Disease / psychology
  • Magnetic Resonance Imaging / methods
  • Magnetic Resonance Imaging / standards*
  • Male
  • Middle Aged
  • Neuroacanthocytosis / diagnostic imaging*
  • Neuroacanthocytosis / psychology
  • Retrospective Studies