Autosomal dominant motor system disease of the Portuguese: A review

R. N. Rosenberg, H. L. Fowler

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Abstract

In 1976, Rosenberg et al described progressive motor system disease beginning in the second and third decades in a Portuguese family, the Joseph family of California, consisting of 329 persons in 9 generations at that time. The clinical picture differed from the earlier reports, because there was progressive spasticity, lurching unsteadiness of gait resulting from spasticity without cerebellar signs, spastic dysarthria, loss of saccadic eye movements, ophthalmoparesis for upward gaze, faciolingual fasciculation, and prominent dystonia of head, face, limbs, and trunk. The neuropathology consisted of neuronal loss in striatum, substantia nigra, basis pontis, dentate nucleus, and cerebellar cortex. Cerebrospinal fluid homovanillic acid levels were reduced, implying neuronal loss in the zona compacta of the substantia nigra. The Joseph family disorder was unique because of the striatonigral degeneration; dystonia was severe in some patients, and cerebellar signs were not evident in any family member examined in 1975. The disease also differed from olivopontocerebellar degeneration in that the medullary inferior olives were not affected, and it differed from Huntington disease in that intelligence remained normal and the cerebral cortex was histologically normal.

Original languageEnglish (US)
Pages (from-to)1124-1126
Number of pages3
JournalNeurology
Volume31
Issue number9
Publication statusPublished - 1981

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ASJC Scopus subject areas

  • Neuroscience(all)

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