Volumetric neuroimaging in neuroacanthocytosis

Abstract

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 f..