GM1-gangliosidosis is a rare heritable lysosomal storage disorder caused by accumulation of GM1-ganglioside due to deficiency of the lysosomal enzyme b-galactosidase required for sphingolipid degradation. Progressive accumulation of GM1-ganglioside in the central nervous system induces hypomyelination that results in progressive neurodegeneration. This study used quantitative diffusion tensor imaging (DTI) in 20 type II GM1 patients to assess white matter tract changes in the internal capsule and corpus callosum of juvenile and late infantile patients. Several DTI parameters showed significant differences between the patient groups and compared to healthy subjects that may be important to track the progression of the disease.
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