Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease]

Twenty-eight patients with mitochondrial disease were systematically investigated on clinical and electrophysiological grounds for peripheral neuropathy (PN): 25 had predominant ophthalmoplegia (including 4 with Kearns-Sayre syndrome) and 3 had predominant central nervous system involvement. There were 11 men and 17 women, mean age 43 years. Nine of the 28 patients had signs of sensory polyneuropathy involving mainly the lower limbs. These 9 patients and another asymptomatic patient had electrophysiological abnormalities: in the lower limbs, sensory potentials were absent or decreased in amplitude in all cases. In peroneal nerves, motor conduction nerve velocities were decreased in 4/10 cases. These data were consistent with an axonopathy. No correlation was found between the presence of PN and the clinical features of the mitochondrial diseases or with the respiratory chain defect (studied in 14 cases).