Autosomal dominant striatonigral degeneration: A ctinical, pathologic, and biochemical study of a new genetic disorder

R. N. Rosenberg, W. L. Nyhan, C. Bay, P. Shore

Research output: Contribution to journalArticle

182 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)703-714
Number of pages12
JournalNeurology
Volume26
Issue number8
DOIs
StatePublished - Aug 1976

ASJC Scopus subject areas

  • Clinical Neurology

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