Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and HD

Liu, J., Heinsen, H., Grinberg, L. T., Alho, E., Amaro, E., Pasqualucci, C. A., Rüb, U., Seidel, K., den Dunnen, W., Arzberger, T., Schmitz, C., Kiessling, M. C., Bader, B. & Danek, A., Apr-2019, In : Neuropathology and Applied Neurobiology. 45, 3, p. 230-243 14 p.

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  • Pathoarchitectonics of the cerebral cortex in chorea‐acanthocytosis and Huntington's disease

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  • Jia Liu
  • Helmut Heinsen
  • Lea T Grinberg
  • Eduardo Alho
  • Edson Amaro
  • Carlos A Pasqualucci
  • Udo Rüb
  • Kay Seidel
  • Wilfred den Dunnen
  • Thomas Arzberger
  • Christoph Schmitz
  • Maren C Kiessling
  • Benedikt Bader
  • Adrian Danek

AIMS: Quantitative estimation of cortical neurone loss in cases with chorea-acanthocytosis and its impact on laminar composition METHODS: We used unbiased stereological tools to estimate the degree of cortical pathology in serial gallocyanin-stained brain sections through the complete hemispheres of three subjects with genetically verified chorea-acanthocytosis (ChAc) and a range of disease durations. We compared these results with our previous data of five Huntington's disease (HD) and five control cases. Pathoarchitectonic changes were exemplarily documented in TE1 of a 61-year-old female HD-, a 60-year-old female control case, and ChAc3.

RESULTS: Macroscopically, the cortical volume of our ChAc cases (ChAc1-3) remained close to normal. However, the average number of neurones was reduced by 46% in ChAc and by 33% in HD (p = 0.03 for ChAc & HD versus controls; p = 0.64 for ChAc versus HD). Terminal HD cases featured selective laminar neurone loss with pallor of layers III, V, and VIa, a high density of small, pale, closely packed radial fibres in deep cortical layers VI and V, shrinkage, and chromophilia of subcortical white matter. In ChAc, pronounced diffuse astrogliosis blurred the laminar borders, thus masking the complete and partial loss of pyramidal cells in layer IIIc and of neurones in layers III, V, and VI.

CONCLUSION: ChAc is a neurodegenerative disease with distinct cortical neurodegeneration. The hypertrophy of the peripheral neuropil space of minicolumns with coarse vertical striation was characteristic of ChAc. The role of astroglia in the pathogenesis of this disorder remains to be elucidated. This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)230-243
Number of pages14
JournalNeuropathology and Applied Neurobiology
Issue number3
Publication statusPublished - Apr-2019

ID: 61640380