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The syndrome of dopa-responsive dystonia comprises a minority dystonia,yet it is of considerable diagnostic importance because patients respond dramatically to L-dopa therapy.Benefits from this treatment are lasting, and the problems associated with long-term L-dopa therapy in patients with Parkinson's disease are generally absent.It has been suggested that this condition is due to a defect in the dopamine synthetic pathway,which is responsive dystonia(5 familial patients and 1 sporadic patient),aged 18 to 66 years.Data have been analyzed according to a graphic approach, calculating an influx constant for each region studied.We have also studied a seventh,clinically atypical,patient with juvenile dystonia- parkinsonism.Similar data have been calculated for a group of 10 healthy modest but significant reduction in the uptake of tracer into both caudate and putamen,which indicates a defect in the decarboxcylation,vesicular uptake,and storage of{18F}dopa.This argues against the proposition that doparesponsive dystonia is due to an inherited defect of tyrosine hydroxylase alone.In the atypical patient,however,we found a greater reduction of{18F}dopa uptake into both caudate and putamen,comparable with that in patients with Parkinson's disease. |
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CAT scan,emission
CAT scan,emission,abnormal
dopa responsive dystonia
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