Abstract
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.
Original language | English (US) |
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Pages (from-to) | 528-529 |
Number of pages | 2 |
Journal | Archives of Neurology |
Volume | 48 |
Issue number | 5 |
DOIs | |
State | Published - May 1991 |
Externally published | Yes |
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology