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1 Digre, Kathleen B.; Gouw, Launce G.; Harris, Catherine P.; Haines, John H.; Ptacek, L.J.Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. W...Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis1994-08
2 Jaeckle, Kurt A.; Digre, Kathleen B.; Jones, Christopher R.; Bailey, Peter L.Central neurogenic hyperventilation: pharmacologic intervention with morphine sulfate and correlative analysis of respiratory, sleep, and ocular motor dysfunction.Central neurogenic hyperventilation (CNH), for which there is no effective therapy, can eventually result in respiratory fatigue and death. This report describes a patient with CNH due to a brainstem anaplastic astrocytoma who also exhibited disturbances of sleep and ocular motor function. The CNH r...Central Neurogenic H yperventilation; Ocular Motor Dysfunction1990-11
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