Although no accumulation of GluCer and glucosylsphingosine was detected in the brain or liver of Sap C-/- or PSAP-/C384S mice, these mice exhibited progressive motor and behavioral deficits, as well as patterned loss of cerebellar Purkinje cells and extensive axonal globular degeneration, pathological features that suggest an important role of Sap C in axonal membrane homeostasis, and disruption of axonal membrane homeostasis can lead to neurodegenerative lesions in lysosomal storage disease (LSDs) [98]. The gene discussed is CCSAP; the disease is lysosomal storage disease.