Further observations on the fine structure of globoid leukodystrophy: Peripheral neuropathy and optic nerve involvement

Abstract

This paper illustrates the fine structure in the peripheral neuropathy globoid leukodystrophy and presents the first fine structural evidence of optic nerve involvement in this disease. Comparison of brain tissue obtained by biopsy and at postmortem examination 11 months later allows us to suggest that ribbons and slender twisted tubules may represent early forms of aggregation of galactose cerebroside. Angular or laminar profiles accumulate as the disease progresses and may be the only type observed late in the disease. In the brain, tubules are seen in oligodendroglia and perivascular cells. In peripheral nerves, laminar inclusions occur largely in perineural histiocytes, but also are seen in Schwann cells. Their profiles are larger, more hollow and laminar, and less angular than their counterparts in the brain. Negatively stained preparations of beef cerebroside show twisted and straight tubules and laminar profiles. They are comparable to those seen in thin sections of globoid cells and negatively stained preparations of brain and peripheral nerve in globoid leukodystrophy. Identification of the material within globoid cells as galactose cerebroside supports the concept that globoid leukodystrophy is a storage disease.