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Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder.

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.
AuthorsR N Rosenberg, W L Nyhan, C Bay, P Shore
JournalNeurology (Neurology) Vol. 26 Issue 8 Pg. 703-14 (Aug 1976) ISSN: 0028-3878 [Print] United States
PMID945867 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Homovanillic Acid
Topics
  • Adult
  • Aged
  • Brain Diseases (cerebrospinal fluid, genetics, physiopathology)
  • Caudate Nucleus (pathology)
  • Cerebellar Nuclei (pathology)
  • Corpus Striatum (pathology)
  • Eye Movements
  • Female
  • Genes, Dominant
  • Homovanillic Acid (cerebrospinal fluid)
  • Humans
  • Male
  • Middle Aged
  • Movement Disorders (genetics)
  • Parkinson Disease (genetics)
  • Pedigree
  • Putamen (pathology)
  • Substantia Nigra (pathology)
  • Syndrome

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