An electrophysiologic and pathologic study of peripheral nerves in individuals with Machado-Joseph disease.

BACKGROUND

Machado-Joseph disease (MJD) is characterized by cerebellar ataxia, pyramidal signs, progressive external ophthalmoplegia, and variable degrees of bulging eyes and dystonia. Electrophysiologic and histologic alterations of the peripheral nervous system in patients with MJD have rarely been reported.

METHODS

The peripheral nerves of four patients with MJD who were identified by polymerase chain reaction were subjected to electrophysiologic testing and histologic study. Correlation analyses were made between clinical parameters and the electrophysiologic as well as histologic changes.

RESULTS

Electrophysiologic studies demonstrated a marked reduction of sensory action potential, as well as a decrease in the compound motor action potential. Light microscopy of the sural nerves revealed marked loss of myelinated fibers, and morphometry studies showed a loss of large myelinated fibers. The severity of these pathologic changes was not related to the duration of the disease.

CONCLUSIONS

In MJD, the peripheral nervous system was frequently affected. These findings were similar to those seen in Friedreich's ataxia, suggesting a loss of sensory and motor fibers probably following a lesion of the dorsal root ganglion and the anterior horns in the spinal cord.