Rapidly progressive autosomal dominant parkinsonism and dementia with pallido‐ponto‐nigral degeneration

Z. K. Wszolek, R. F. Pfeiffer, M. H. Bhatt, R. L. Schelper, M. Cordes, B. J. Snow, R. L. Rodnitzky, E. Ch Wolters, F. Arwert, D. B. Calne

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Abstract

We describe a family with nearly 300 members over 8 generations with 32 affected individuals who have an autosomal dominant neurodegenerative disease characterized by progressive parkinsonism with dystonia unrelated to medications, dementia, ocular motility abnormalities, pyramidal tract dysfunction, frontal lobe release signs, perseverative vocalizations, and urinary incontinence. The course is exceptionally aggressive; symptom onset and death consistently occur in the fifth decade. Positron emission tomographic studies with [18F]6‐fluoro‐L‐dopa(6FD) were performed in 4 patients and 7 individuals at risk for development of the disease. All affected subjects had markedly reduced striatal uptake of 6FD(p < 0.001). All individuals at risk had normal striatal uptake, but high 6FD uptake rate constants were noted in 3 of the 7 studied. Autopsy findings revealed severe neuronal loss with gliosis in substantia nigra, pontine tegmentum, and globus pallidus, with less involvement of the caudate and the putamen. There were no plaques, tangles, Lewy bodies, or amyloid bodies. This kindred appears to represent a neurodegenerative disease not heretofore described. We propose the following name for this new genetic disease: autosomal dominant parkisonism and dementia with pallido‐ponto‐nigral degeneration.

Original languageEnglish (US)
Pages (from-to)312-320
Number of pages9
JournalAnnals of Neurology
Volume32
Issue number3
DOIs
StatePublished - Sep 1992

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ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Wszolek, Z. K., Pfeiffer, R. F., Bhatt, M. H., Schelper, R. L., Cordes, M., Snow, B. J., Rodnitzky, R. L., Wolters, E. C., Arwert, F., & Calne, D. B. (1992). Rapidly progressive autosomal dominant parkinsonism and dementia with pallido‐ponto‐nigral degeneration. Annals of Neurology, 32(3), 312-320. https://doi.org/10.1002/ana.410320303