Globoid cell leucodystrophy (Krabbe's disease) in sheep

Abstract

Globoid cell leucodystrophy is a genetically inherited disease which occurs in man, dogs and cats. The clinical manifestations of the disease are almost exclusively neurological, and typical histological changes are apparent in brain white matter (presence of globoid cells). The primary defect in this disease is a deficiency of the enzyme galactocerebroside β-galactosidase. Recently we have examined sheep with neurological signs which had lesions in the brain similar to those changes described above. In order to confirm the diagnosis of globoid cell leucodystrophy we examined the activities of 3 enzymes in aqueous homogenates of control and affected sheep brains. The results showed that the activity of the galactocerebroside β-galactosidase in the affected sheep brain was less than 5% of the activity in the controls whereas the activities of α- and β-galactosidase in the control and affected sheep brains were the same. These results confirmed the initial diagnosis. Globoid cell leucodystrophy is a genetically inherited disease which occurs in man, dogs and cats. The clinical manifestations of the disease are almost exclusively neurological, and typical histological changes are apparent in brain white matter (presence of globoid cells). The primary defect in this disease is a deficiency of the enzyme galactocerebroside β-galactosidase. Recently we have examined sheep with neurological signs which had lesions in the brain similar to those changes described above. In order to confirm the diagnosis of globoid cell leucodystrophy we examined the activities of 3 enzymes in aqueous homogenates of control and affected sheep brains. The results showed that the activity of the galactocerebroside β-galactosidase in the affected sheep brain was less than 5% of the activity in the controls whereas the activities of α- and β-galactosidase in the control and affected sheep brains were the same. These results confirmed the initial diagnosis.