A gene expression study in a mouse model of ATXN1 reported changes in the expression of many ECM genes and functionally related genes, including collagens, laminin, integrins, matrix metalloproteinases (MMPs), and disintegrins, suggesting that ECM might be a relevant pathogenetic element in cerebellar ataxias [13, 43]. This evidence concerns the gene ATXN1 and aceruloplasminemia.