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Cataplexy and monoamine oxidase deficiency in Norrie disease

Epilepsy Center, Swedish Health Services, Seattle, WA. (Dr. Vossler) (Dr. Wyler) (Dr. Wilkus) (Ms. Gardner-Walker)
Division of Child Neurology, Swedish Health Services, Seattle, WA. (Dr. Vlcek)

Address correspondence and reprint requests to Dr Vossler, Epilepsy Center, Swedish Health Services, 801 Broadway, #830, Seattle, WA 98122.

Norrie disease (ND) is an X-linked recessive disorder causing ocular atrophy, mental retardation, deafness, and dysmorphic features. Virtually absent monoamine oxidase (MAO) type-A and -B activity has been found in some boys with chromosome deletions. We report the coexistence of cataplexy and abnormal REM sleep organization with ND. Three related boys, referred for treatment of medically refractory atonic spells and apneas, underwent extended EEG-video-polysomnographic monitoring. They demonstrated attacks of cataplexy and inappropriate periods of REM sleep during which they were unarousable. One boy also had generalized tonic-clonic seizures. Previous testing revealed that all three have complete ND gene deletions. In all subjects, platelet MAO-B activity was absent, serum serotonin levels were markedly increased, and plasma catecholamine levels were normal. Data from the canine narcolepsy syndrome model implicate abnormal catecholaminergic and cholinergic activities in the pathogenesis of cataplexy. Our findings suggest that abnormal MA0 activity or an imbalance between serotonin and other neurotransmitter levels may be involved in the pathogenesis of human cataplexy.

Supported by the Epilepsy Center Foundation. Swedish Health Services, Seattle, Washington.

Presented in part at the 47th annual meeting of the American Academy of Neurology, Seattle, WA, 1995.

Received September 18, 1995 Accepted in final form October 30, 1995.

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