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From the Departments of Neurology (Dr. Rosenberg) and Pharmacology (Dr. Shore), The University of Texas Health Science Center, Southwestern Medical School at Dallas, and the Department of Pediatrics, The University of California School of Medicine, San Diego (Dr. Nyhan, Ms. Bay).
An autosomal dominant striatonigral degeneration is present in a family of Portuguese ancestry numbering in excess of 329 persons in eight generations. The illness begins in the second, third, or fourth decade, and progresses for about 15 years with parkinsonian rigidity, spasticity, spastic dysarthria, and abnormalities of eye movement. Neuropathologic findings are severe neuronal loss and astrocytic gliosis in the corpus striatum and substantia nigra, with a moderate neuronal loss in the dentate nucleus of the cerebellum and nucleus ruber of the midbrain. This is a new genetic entity, distinct from other autosomal dominant neurologic disorders such as nigrospinodentatal degeneration, olivopontocerebellar degeneration, dystonia musculorum deformans, Machado's disease, and Huntington's disease.
Requests for reprints should be addressed to Dr. Rosenberg, Department of Neurology, The University of Texas Health Science Center, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235.
This paper was presented in part at the twenty-eighth annual meeting of the American Academy of Neurology, April 1976, Toronto, Canada.
Received for publication February 11, 1976.
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