論文

査読有り
2020年1月15日

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

Journal of the Neurological Sciences
  • Fumio Suzuki
  • Noriko Sato
  • Miho Ota
  • Atsuhiko Sugiyama
  • Yoko Shigemoto
  • Emiko Morimoto
  • Yukio Kimura
  • Noritaka Wakasugi
  • Yuji Takahashi
  • Akinori Futamura
  • Mitsuru Kawamura
  • Kenjiro Ono
  • Masayuki Nakamura
  • Akira Sano
  • Masako Watanabe
  • Hiroshi Matsuda
  • Osamu Abe
  • 全て表示

408
記述言語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.jns.2019.116545

© 2019 Elsevier B.V. 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.

リンク情報
DOI
https://doi.org/10.1016/j.jns.2019.116545
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/31704285
Scopus
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85074392478&origin=inward
Scopus Citedby
https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85074392478&origin=inward
ID情報
  • DOI : 10.1016/j.jns.2019.116545
  • ISSN : 0022-510X
  • eISSN : 1878-5883
  • PubMed ID : 31704285
  • SCOPUS ID : 85074392478

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