Krabbe Disease in the Australian Working Kelpie

Abstract

Krabbe disease is a lysosomal storage disorder that affects several species including humans, mice and dogs. It is caused by mutations in the GALC gene that encodes galactosylceramidase. These mutations result in lowered activity of this lysosomal enzyme which has an important role in myelin turnover. As a consequence of this, individuals with Krabbe disease show signs of neurological disease and pathological features occur in the central and peripheral nervous systems. These pathological features are globoid cells, demyelination and inflammation. Mechanisms behind the development of these features remain unclear despite genetic, biochemical, cellular and clinical studies. Genetic studies in Krabbe disease have allowed the development of PCR-based tests which have been proven to be a useful tool in identifying carriers of the disease. The recent diagnosis of Krabbe disease in the Australian Working Kelpie provides a new opportunity for genetic and pathological studies to further characterise Krabbe disease.