Machado-Joseph disease (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia and dystonia. There has been no report of electrophysiological or histological alterations of the peripheral nervous system in patients with MJD.

Four patients with MJD were identified by polymerase chain reaction. The peripheral nerves of these patients were subjected to electrophysiological testing and histological study. Correlation analyses were made between various clinical parameters and the electrophysiological and histological changes.

Electrophysiological studies demonstrated a marked reduction of sensory action potential, acute denervation changes on needle EMG, as well as mild decrease in the compound motor action potential. Light microscopy of the sural nerves revealed clear loss of myelinated fibers, and morphometry studies showed a loss of large myelinated fibers. Moreover, the severity of these pathological changes was found to be related to the CAG repeat length in the MJD gene.

Our findings indicated that the peripheral nervous system was frequently affected in patients with MJD. 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. Furthermore, the number of CAG repeats seems to have an inverse relationship to the extent of pathological changes of the peripheral nerves.

Kennedy's disease (KD) is an X-linked recessive polyglutamine disease. Traditionally, it is a lower motor neuron syndrome with additional features such as gynecomastia and tremor. Sensory symptoms are minimal if ever present. We used multimodal evoked potential (EPs) tests to study the distribution of the involvement of the disease.

Visual, brainstem auditory, somatosensory and motor EPs were studied in six KD patients. All of them had typical presentations and had been proved genetically.

Abnormal findings were noted as follows: prolonged peak latencies of visual EPs, increased hearing threshold level, inconsistent brainstem auditory EPs, decreased amplitudes of cortical potentials of somatosensory EPs, and increased motor threshold to transcranial magnetic stimulation.

Our multimodal EP studies showed that KD involved multiple levels of the nervous system. It implies the widespread effects of the mutant androgen receptors.