Sporadic amyotrophic lateral sclerosis resembling primary lateral sclerosis: report of an autopsy case and a review of the literature.

This report describes the clinicopathological findings of a case of sporadic amyotrophic lateral sclerosis (ALS) resembling primary lateral sclerosis (PLS). A Japanese man developed muscle weakness in the distal part of the right upper extremity at age 59. At age 60 he presented with bradycinesia and rigidity. A neurological examination revealed fasciculation and increased deep tendon reflexes in the extremities. He developed decubitus and vesicorectal disturbance 2 months before his death at age 61. The neuropathological examination revealed not only prom-inent degeneration of the pyramidal tracts, evident in the internal capsule, but also loss of Betz's cells in the motor cortex. There was relative preservation of the neurons in the hypoglossal nuclei and anterior horns of the cervical and lumbar cord. In the anterior horn of the first sacral cord, there were small aggregates of lipofuscin-laden macrophages in locations from which large cells had presumably been lost. Bunina bodies and ubiquitin-immunoreactive neuronal inclusions were present in the anterior horn cells of the spinal cord. On the basis of these clinicopathological findings, we concluded that this case was one of sporadic ALS with predominant involvement of the upper motor neuron system and exhibiting features of PLS.