Calcineurin and synaptophysin in the human spinal cord of normal individuals and patients with familial dysautonomia.

This report concerns the immunohistochemical demonstration of two neuronal Ca2(+)-binding proteins, calcineurin and synaptophysin, in the spinal cord of normal controls and from patients with familial dysautonomia. In controls, calcineurin immunoreactivity was highly concentrated in small nerve cells and fibers of the substantia gelatinosa. Synaptophysin immunoreactivity was normally distributed throughout the spinal cord gray matter, being highly concentrated in the substantia gelatinosa, the dorsal nucleus of Clarke and the anterior horn. In patients with familial dysautonomia, no apparent changes in calcineurin immunoreactivity were found in the substantia gelatinosa. By contrast, there was a significant depletion of synaptophysin-positive axon terminals in the substantia gelatinosa and in the dorsal nucleus of Clarke of patients with familial dysautonomia.