机构：[1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China,神经内科首都医科大学宣武医院[2]Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universitat Munchen, Munchen,[3]Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital Wurzburg, Wurzburg, Germany,[4]Ageing Brain Study Group, Department of Pathology, University of Sao Paulo Medical School, Sao Paulo, Brazil,[5]Department of Neurology, University of California, San Francisco, San Francisco, CA, USA,[6]Praca Amadeu Amaral, Sao Paulo, Brazil[7]Department of Radiology, University of Sao Paulo Medical School, Sao Paulo, Brazil,[8]Experimental Neurobiology (Anatomical Institute II), Goethe-University, Frankfurt/Main, Germany[9]Anatomy & Cell Biology, Medical Faculty, Anatomical Institute, University of Bonn, Bonn, Germany,[10]Department of Pathology and Medical Biology, University Medical Center Groningen University of Groningen, Groningen, The Netherlands,[11]Center for Neuropathology and Prion Research,Munich, Germany[12]Department of Psychiatry and Psychotherapy, Munich, Germany[13]Department of Neuroanatomy, Ludwig-Maximilians-Universitat Munchen, Munich, Germany[14]Clienia Privatklinik fur Psychiatrie und Psychotherapie, Oetwil am See, Switzerland
Aims Quantitative estimation of cortical neurone loss in cases with chorea-acanthocytosis (ChAc) 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 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 vs. controls; P = 0.64 for ChAc vs. 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.
基金：
the ERA-net E-Rare consortium EMINA (European Multidisciplinary Initiative on Neuroacanthocytosis; BMBF 01GM1003)
the National Natural Science Foundation of China (Grant No. 81601099);
Deutsche Huntington-Hilfe e.V. and Huntington-Selbsthilfe NRW e.V.
Elisabeth Feith-Foundation (Huntington disease research);
the Scientific Research Foundation for the Returned Overseas Chinese Scholars,
State Education Ministry [(2015) No. 1098];
Beijing Talents Fund (2015000026833ZK06);
Beijing Municipal Administration of Hospitals Youth Program (QML20150801);
Support Project of High-level Teachers in Beijing Municipal Universities in the Period of 13th Five-year Plan (CIT&TCD201804091);
Clinical-Basic Medicine Cooperation Fund of Capital Medical University (16JL28).
第一作者机构：[1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China,[2]Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universitat Munchen, Munchen,
通讯作者：
通讯机构：[*1]Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital Wurzburg, Germany.
推荐引用方式(GB/T 7714)：
J. Liu,H. Heinsen,L. T. Grinberg,et al.Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease[J].NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY.2019,45(3):230-243.doi:10.1111/nan.12495.
APA：
J. Liu,H. Heinsen,L. T. Grinberg,E. Alho,E. Amaro Jr...&A. Danek.(2019).Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease.NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY,45,(3)
MLA：
J. Liu,et al."Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease".NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY 45..3(2019):230-243
