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Ataxia Clinic, Department of Neurology, Reed Neurological and Jerry Lewis Neuromuscular Research Centers, UCLA School of Medicine, Los Angeles, California.
Reduced activities of lipoamide dehydrogenase (LAD) relative to cytochrome oxidase have been found in 12 of 26 patients with inherited ataxias. One of the 12 patients had adult-onset ataxia plus ragged-red muscle fibers. The other 11 had Friedreich syndrome or early-onset variants of this, as did 6 patients with normal enzyme activity. However, the 11 patients with reduced enzyme activity were clinically more homogeneous than the 6 with normal activity.
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