Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy (Krabbe Disease)

CR Corado, J Pinkstaff, X Jiang, EM Galban… - Molecular and Cellular …, 2020 - Elsevier
Globoid cell leukodystrophy (GLD, Krabbe disease, Krabbe's disease) is caused by genetic
mutations in the gene encoding, galactosylceramidase (GALC). Deficiency of this enzyme
results in central and peripheral nervous system pathology, and is characterized by loss of
myelin and an infiltration of globoid cells. The canine model of GLD provides a translational
model which faithfully recapitulates much of the human disease pathology. Targeted
lipidomic analysis was conducted in serum and cerebrospinal fluid (CSF) over the lifetime of …