Neuroimaging provides an in vivo method of understanding the changes to brain structure and function that occur with CNS disorders, and have provided important insights into a range of neurodegenerative disorders. The rarity of choreaacanthocytosis has thus far limited the application of neuroimaging methodologies to the disease. Increasing recognition of the disorder and improved diagnosis with antibody screening has allowed for initial study of structural brain changes. Voxel-based morphometry takes a whole-brain, hypothesis-neutral approach and determines where maximal differences occur in brain regions between groups. When six patients were compared to controls, maximal reductions were found bilaterally in the caudate head. Manual volumetric approaches allow for more sophisticated between-group analyses. When the caudate nuclei of ten patients were delineated, reductions of approximately 80% of total volume were shown in chorea-acanthocytosis patients, again maximal in the caudate head. Future studies are required that follow brain changes longitudinally, and compare patients with this rare disorder to related disorders such as Huntington’s disease.
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Henkel, K., Walterfang, M., Velakoulis, D., Danek, A., Kassubek, J. (2008). Volumetric Neuroimaging in Neuroacanthocytosis. In: Walker, R.H., Saiki, S., Danek, A. (eds) Neuroacanthocytosis Syndromes II. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-71693-8_14
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