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May 1991

Neurophysiologic Studies of the Peripheral Nervous System in Nephropathic Cystinosis

Author Affiliations

From the Departments of Neurosciences (Drs Swenson and Trauner), Ophthalmology (Drs Rimmer and Melles), and Pediatrics (Drs Schneider and Trauner), University of California, San Diego, School of Medicine; and the Pacific Presbyterian Medical Center and the Smith-Kettlewell Eye Research Institute, San Francisco, Calif (Dr Katz).

Arch Neurol. 1991;48(5):528-529. doi:10.1001/archneur.1991.00530170092026

• Cystinosis is an autosomal recessive metabolic disorder in which nonprotein cystine accumulates within most body tissues due to a defect in lysosomal cystine transport. Neurologic declarations are only recently being recognized. We studied 13 cystinotic subjects (aged 5 to 21 years old), determining median motor and sensory nerve conduction velocities, F waves, peroneal motor nerve conduction velocities, sural sensory nerve conduction velocities, median sympathetic skin response, electrocardiogram R-to-R variability, and blink reflex analysis. The results were normal. We conclude that neurophysiologic testing suggests relative sparing of the peripheral nervous system in nephropathic cystinosis.

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