Autosomal dominant parkinsonism with benign course and typical Lewy-body pathology

L. I. Golbe, A. M. Lazzarini, K. O. Schwarz, M. H. Mark, Dennis W Dickson, R. C. Duvoisin

Research output: Contribution to journalArticlepeer-review

61 Scopus citations

Abstract

The few previously reported patients with familial parkinsonism and Lewy-body pathology in the substantia nigra displayed a variety of clinical and pathologic syndromes. We now describe a family with very slowly progressive Parkinson's disease (PD) that has, in most cases, responded poorly to levodopa and includes subjective visual difficulty. Four personally confirmed cases - with onset at ages 35, 25, 16, and 16 - have occurred in three generations, and four suspicious cases have occurred in three other generations. There has been a trend toward progressively younger age of onset. One autopsied case showed a distribution of cell loss and Lewy bodies typical of PD. The hereditary pattern is most compatible with autosomal dominance. This kindred's illness shows that a presumably single Mendelian dominant gene can cause the clinical and pathologic features of PD, and further extends the clinical spectrum of pathologically typical Lewy-body PD.

Original languageEnglish (US)
Pages (from-to)2222-2227
Number of pages6
JournalNeurology
Volume43
Issue number11
StatePublished - Nov 1993
Externally publishedYes

ASJC Scopus subject areas

  • Neuroscience(all)

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