Sporadic amyotrophic lateral sclerosis with multiple system degeneration: a report of an autopsy case without respirator administration

This report concerns an autopsy case of amyotrophic lateral sclerosis (ALS) with unusual clinical and neuropathological findings. The patient was a Ja panese man without: hereditary burden who was 49 years old at the rime of d eath. His clinical manifestation included dysarthria at age 48, followed by dysphagia, atrophy and fasciculation of the tongue, muscle weakness in the four extremities, tremor, rigidity, increased deep tendon reflexes in the upper and lower extremities, and incoordination of the four extremities. He died of respiratory failure 12 months after the disease onset. No respirat or administration was performed throughout the clinical course. The neuropa thological examination revealed not only degeneration of upper and lower mo tor neuron systems, including the presence of Bunina bodies and ubiquitin-i mmunoreactive neuronal inclusions in the lower motor neurons, but also prom inent degeneration of the substantia nigra and dentate nucleus with slight neuronal loss in the locus ceruleus and pontine nucleus; To our knowledge, this is the first reported case of sporadic ALS without dementia and respir ator support, showing degeneration of the substantia nigra and dentate nucl eus. This report may contribute to the resolution of the question concernin g the neuropathological heterogeneity of sporadic ALS with respiratory supp ort.