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Neurology 2002;59:735-740
© 2002 American Academy of Neurology

Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia

K. E. Peltola, MD, S. Jääskeläinen, MD, PhD, O. J. Heinonen, MD, PhD, B. Falck, MD, PhD, K. Näntö–Salonen, MD, PhD, K. Heinänen, MD and O. Simell, MD, PhD

From the Department of Pediatrics (Drs. Peltola, Näntö–Salonen, Heinänen, and Simell); Paavo Nurmi Centre, Sports and Exercise Medicine Unit, Department of Physiology (Drs. Peltola and Heinonen) and Department of Clinical Neurophysiology (Drs. Jääskeläinen and Falck), University of Turku; and Central Laboratory (Dr. Heinonen), Turku University Central Hospital, Turku, Finland.

Address correspondence and reprint requests to Dr. Katja Peltola, Paavo Nurmi Centre, Sports and Exercise Medicine Unit, Department of Physiology, University of Turku, Kiinamyllynkatu 10, FIN-20520 Turku, Finland; e-mail: katja.peltola{at}utu.fi

Objective: To evaluate peripheral nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinemia (GA).

Background: GA is an inborn error of amino acid metabolism caused by mutations in the enzyme ornithine aminotransferase. Patients with GA have hyperornithinemia, progressive centripetal loss of vision, minor CNS abnormalities, and type II muscle fiber atrophy with accumulation of tubular aggregates. The authors previously showed that muscle and brain creatine stores are depleted in the patients with GA.

Methods: The authors searched evidence of peripheral nervous involvement in 40 patients with GA (mean age 31.6 ± 16.3 years; range 5 to 74 years) by using neurography, quantitative sensory threshold testing, and evoked potential testing.

Results: Neurography revealed abnormalities in 21 (53%) of the patients. The abnormalities associated with the severity of the ophthalmologic changes and the age of the patients. With quantitative sensory threshold testing, abnormal large-fiber function was found in seven (18%) and abnormal small-fiber function was found in four (10%) patients. Somatosensory evoked potential and brainstem auditory evoked potential responses were abolished in five patients.

Conclusions: These findings of peripheral nervous system involvement in GA suggest that GA is a systemic disease affecting not only CNS but also the peripheral nervous system.






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