TY - JOUR
T1 - Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family
AU - Kishore, A.
AU - Wszolek, Z. K.
AU - Snow, B. J.
AU - De La Fuente-Fernandez, R.
AU - Arwert, F.
AU - Wijker, M.
AU - Schulzer, M.
AU - Calne, D. B.
AU - Vingerhoets, F. J.G.
PY - 1996/12
Y1 - 1996/12
N2 - 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.
AB - 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.
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U2 - 10.1212/WNL.47.6.1588
DO - 10.1212/WNL.47.6.1588
M3 - Article
C2 - 8960754
AN - SCOPUS:0029730805
SN - 0028-3878
VL - 47
SP - 1588
EP - 1590
JO - Neurology
JF - Neurology
IS - 6
ER -