ArticleNeuropathology and applied neurobiology2019
Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease.
Article in Neuropathology and applied neurobiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 18 citations in OpenAlex.
- Huntingtin in the amygdaloid basolateral complex is correlated with Vonsattel staging in Huntington's disease.Brain communications · 2026Article
- Histo- and cytopathological findings in the brain of two fire fatalities.Forensic science, medicine, and pathology · 2025Article
- Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System.Neuropathology and applied neurobiology · 2025Article
- Genetic overlap between schizophrenia and constipation: insights from a genome-wide association study in a European population.Annals of general psychiatry · 2025Article
- Preserved VPS13A distribution and expression in Huntington's disease: divergent mechanisms of action for similar movement disorders?Frontiers in neuroscience · 2024Article
- Identification of pivotal genes and pathways in Chorea-acanthocytosis using comprehensive bioinformatic analysis.PloS one · 2024Article
- An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease.Journal of personalized medicine · 2021Article
- Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis.Acta neuropathologica communications · 2021Article
- Association of sleep disturbance and freezing of gait in Parkinson disease: prevention/delay implications.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2021Article
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
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14 authors at 7 institutions in 5 countries.
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Abstract
aimsQuantitative estimation of cortical neurone loss in cases with chorea-acanthocytosis (ChAc) and its impact on laminar composition.
methodsWe 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.
resultsMacroscopically, 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.
conclusionChAc 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.
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