Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules.

We report a 48-year-old woman with familial spastic paraplegia (FSP) showing mental retardation, amyotrophy and sensory disturbance. Her parents were second cousins and there were two other affected siblings in the family. Autopsy revealed degenerative lesions characterized by neuronal loss and gliosis in the upper and lower motor neuron systems, thalamus, lateral geniculate body, dentate nucleus and posterior column of the spinal cord. The remaining neurons often contained ubiquitinated lipofuscin granules. Although the corpus callosum was severely attenuated, it exhibited well-preserved myelination and only minimal gliosis. In the substantia nigra, the number of pigmented neurons was apparently low, but there was slight gliosis and no extraneuronal free melanin pigment in the background. The neurons in this brain region contained much smaller amounts of melanin pigment than might be expected for the patient's age. These findings suggest that this is an example of a family with autosomal recessive FSP with thin corpus callosum, and that maldevelopment of the corpus callosum and substantia nigra is a characteristic feature of the disease.