Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family

A. Kishore, Z. K. Wszolek, B. J. Snow, R. De La Fuente-Fernandez, F. Arwert, M. Wijker, M. Schulzer, D. B. Calne, F. J.G. Vingerhoets

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

Pallido-ponto-nigral degeneration (PPND) is a dominantly inherited disorder with parkinsonism. We performed PET with [18F]fluorodopa (FD) and, later, gene testing in 12 asymptomatic relatives at risk from a family with PPND and compared the striatal FD uptake constant (K(i)) in them with 4 symptomatic individuals and 10 normal control subjects. Four relatives with positive linkage had a significantly reduced K(i) from the normal control subjects but to a lesser degree than the symptomatic patients. The mean K(i) in the relatives with negative linkage (n = 8) did not differ from normal control subjects. In conclusion, we identified reduced dopaminergic function in asymptomatic relatives with positive genetic linkage from the PPND family. Most of the reduction in this disorder occurs in the fifth decade, when the disease manifests clinically.

Original languageEnglish (US)
Pages (from-to)1588-1590
Number of pages3
JournalNeurology
Volume47
Issue number6
DOIs
StatePublished - Dec 1996

ASJC Scopus subject areas

  • Clinical Neurology

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