Clinical Comments:

Globoid cell leucodystrophy is a lysosomal storage disease that results in neurological disease of dogs characterized by peripheral nerve, spinal cord and cerebellar dysfunction, caused by a mutation in the gene encoding galactocerebrosidase responsible for lysosomal hydrolysis of galactolipids found in myelin. Age of onset 3 - 18 months of age. Symptoms include: poor weight gain, progressive peripheral neuropathy including ataxia, leg crossing, tremors, and exercise induced paresis. This progresses to: behavioral changes, blindness, dementia, anorexia, cachexia, urinary incontinence and quadriparesis, with death occurring 2 - 6 months after onset of clinical signs. Definitive diagnosis via DNA testing.