Supporting Information S1 - Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene

The file contains supplemental methods and three supporting figures. Figure S1: Skin biopsy of index patient II.7. Lipid content was normal and intraepidermal nerve fiber density was slightly reduced. Subepidermal and intraepidermal (arrow) PGP 9.5 positive cutaneous nerve fibers. Magnification 400-fold. Figure S2: GLA expression in patients’ leukocytes. Semi-quantitative PCR was performed with RNA samples extracted from leukocytes. GPDH was used as loading control. All tested patients showed GLA mRNA expression in leukocytes. Figure S3: GLA protein expression in plasma. Western-blot analysis was performed with 20 µg of total plasma protein. All tested patients showed GLA protein expression in plasma. GLA protein size: 53 kDa. (DOC)